{
    "disease_id": "DOID:0070178",
    "recommended_name": {
        "id": "DOID:0070178",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070178",
        "name": "spermatogenic failure 10",
        "description": "A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070178",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070178",
            "name": "SPGF10",
            "description": ""
        },
        {
            "id": "DOID:0070178",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070178",
            "name": "Spermatogenic failure with defective sperm annulus",
            "description": ""
        },
        {
            "id": "MONDO:0013901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013901",
            "name": "spermatogenic failure 10",
            "description": "Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene."
        },
        {
            "id": "MONDO:0013901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013901",
            "name": "SEPT12 azoospermia",
            "description": ""
        },
        {
            "id": "MONDO:0013901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013901",
            "name": "azoospermia caused by mutation in SEPT12",
            "description": ""
        },
        {
            "id": "MONDO:0013901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013901",
            "name": "spermatogenic failure 10",
            "description": ""
        },
        {
            "id": "MONDO:0013901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013901",
            "name": "spermatogenic failure type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013901",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013901",
            "name": "SPGF10",
            "description": ""
        },
        {
            "id": "MIM:614822",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614822",
            "name": "Spermatogenic failure 10",
            "description": "Spermatogenic failure 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070178"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070178",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070178",
            "categories": []
        },
        {
            "id": "MONDO:0013901",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013901",
            "categories": []
        },
        {
            "id": "MIM:614822",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614822",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FGH0-1",
            "uniprot_ac": "E7FGH0",
            "uniprot_id": "E7FGH0_DANRE",
            "refseq_ac": "XP_009297747",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein septin12 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein septin12 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "septin12",
                    "type": "recommended"
                },
                {
                    "name": "septin12",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FGH0-1",
            "evidence": [
                {
                    "id": "0070178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2R8VJU7-1",
            "uniprot_ac": "A0A2R8VJU7",
            "uniprot_id": "SEP12_MOUSE",
            "refseq_ac": "NP_001360874",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Septin 12",
                    "type": "recommended"
                },
                {
                    "name": "septin-12 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Septin12",
                    "type": "recommended"
                },
                {
                    "name": "1700028G04Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933413B09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sept12",
                    "type": "synonym"
                },
                {
                    "name": "Septin12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8VJU7-1",
            "evidence": [
                {
                    "id": "0070178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IYM1-1",
            "uniprot_ac": "Q8IYM1",
            "uniprot_id": "SEP12_HUMAN",
            "refseq_ac": "NP_001147930",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Septin-12",
                    "type": "recommended"
                },
                {
                    "name": "septin-12 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 168",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEPTIN12",
                    "type": "recommended"
                },
                {
                    "name": "SEPT12",
                    "type": "synonym"
                },
                {
                    "name": "SEPTIN12",
                    "type": "synonym"
                },
                {
                    "name": "SPGF10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IYM1-1",
            "evidence": [
                {
                    "id": "614822",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614822"
                },
                {
                    "id": "0070178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25342-1",
            "uniprot_ac": "P25342",
            "uniprot_id": "CDC10_YEAST",
            "refseq_ac": "NP_009928",
            "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": "Cell division control protein 10",
                    "type": "recommended"
                },
                {
                    "name": "septin CDC10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC10",
                    "type": "recommended"
                },
                {
                    "name": "CDC10",
                    "type": "synonym"
                },
                {
                    "name": "YCR022",
                    "type": "synonym"
                },
                {
                    "name": "YCR2C",
                    "type": "synonym"
                }
            ],
            "record_id": "P25342-1",
            "evidence": [
                {
                    "id": "0070178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070178"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V8G5-1",
            "uniprot_ac": "Q4V8G5",
            "uniprot_id": "SEP12_RAT",
            "refseq_ac": "NP_001094335",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Septin-12",
                    "type": "recommended"
                },
                {
                    "name": "septin-12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Septin12",
                    "type": "recommended"
                },
                {
                    "name": "Sept12",
                    "type": "synonym"
                },
                {
                    "name": "Septin12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8G5-1",
            "evidence": [
                {
                    "id": "0070178",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070178"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070178"
}