{
    "disease_id": "DOID:0070171",
    "recommended_name": {
        "id": "DOID:0070171",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070171",
        "name": "spermatogenic failure 12",
        "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26."
    },
    "synonyms": [
        {
            "id": "DOID:0070171",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070171",
            "name": "SPGF12",
            "description": ""
        },
        {
            "id": "MONDO:0014172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014172",
            "name": "spermatogenic failure 12",
            "description": "Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene."
        },
        {
            "id": "MONDO:0014172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014172",
            "name": "NANOS1 azoospermia",
            "description": ""
        },
        {
            "id": "MONDO:0014172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014172",
            "name": "azoospermia caused by mutation in NANOS1",
            "description": ""
        },
        {
            "id": "MONDO:0014172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014172",
            "name": "spermatogenic failure 12",
            "description": ""
        },
        {
            "id": "MONDO:0014172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014172",
            "name": "spermatogenic failure type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014172",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014172",
            "name": "SPGF12",
            "description": ""
        },
        {
            "id": "MIM:615413",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615413",
            "name": "Spermatogenic failure 12",
            "description": "Spermatogenic failure 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070171"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070171",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070171",
            "categories": []
        },
        {
            "id": "MONDO:0014172",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014172",
            "categories": []
        },
        {
            "id": "MIM:615413",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615413",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FDB3-1",
            "uniprot_ac": "E7FDB3",
            "uniprot_id": "NANO1_DANRE",
            "refseq_ac": "NP_001292590",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nanos homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "nanos homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "nanos-related",
                    "type": "synonym"
                },
                {
                    "name": "nos2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nanos1",
                    "type": "recommended"
                },
                {
                    "name": "fb76c12",
                    "type": "synonym"
                },
                {
                    "name": "fb93h11",
                    "type": "synonym"
                },
                {
                    "name": "fb98e07",
                    "type": "synonym"
                },
                {
                    "name": "nanos1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb76c12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb93h11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb98e07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fq21a10",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FDB3-1",
            "evidence": [
                {
                    "id": "0070171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80WY3-1",
            "uniprot_ac": "Q80WY3",
            "uniprot_id": "NANO1_MOUSE",
            "refseq_ac": "NP_848508",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nanos homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "NOS-1",
                    "type": "synonym"
                },
                {
                    "name": "nanos 1",
                    "type": "synonym"
                },
                {
                    "name": "nanos homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nanos1",
                    "type": "recommended"
                },
                {
                    "name": "NOS-1",
                    "type": "synonym"
                },
                {
                    "name": "Nanos1",
                    "type": "synonym"
                },
                {
                    "name": "Nos",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80WY3-1",
            "evidence": [
                {
                    "id": "0070171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WY41-1",
            "uniprot_ac": "Q8WY41",
            "uniprot_id": "NANO1_HUMAN",
            "refseq_ac": "NP_955631",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nanos homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "EC_Rep1a",
                    "type": "synonym"
                },
                {
                    "name": "NOS-1",
                    "type": "synonym"
                },
                {
                    "name": "nanos homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NANOS1",
                    "type": "recommended"
                },
                {
                    "name": "EC_Rep1a",
                    "type": "synonym"
                },
                {
                    "name": "NANOS1",
                    "type": "synonym"
                },
                {
                    "name": "NOS-1",
                    "type": "synonym"
                },
                {
                    "name": "NOS1",
                    "type": "synonym"
                },
                {
                    "name": "SPGF12",
                    "type": "synonym"
                },
                {
                    "name": "ZC2HC12A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WY41-1",
            "evidence": [
                {
                    "id": "615413",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615413"
                },
                {
                    "id": "0070171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LVJ1-1",
            "uniprot_ac": "A0ABK0LVJ1",
            "uniprot_id": "A0ABK0LVJ1_RAT",
            "refseq_ac": "NP_001387861",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nanos C2HC-type zinc finger 1",
                    "type": "synonym"
                },
                {
                    "name": "nanos homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nanos1",
                    "type": "recommended"
                },
                {
                    "name": "Nanos1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LVJ1-1",
            "evidence": [
                {
                    "id": "0070171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070171"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25724-1",
            "uniprot_ac": "P25724",
            "uniprot_id": "NANOS_DROME",
            "refseq_ac": "NP_476658",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein nanos",
                    "type": "recommended"
                },
                {
                    "name": "CG5637-PA",
                    "type": "synonym"
                },
                {
                    "name": "nanos, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "nanos-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nanos",
                    "type": "recommended"
                },
                {
                    "name": "CG5637",
                    "type": "synonym"
                },
                {
                    "name": "DRONANOS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5637",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5637",
                    "type": "synonym"
                },
                {
                    "name": "Dronanos",
                    "type": "synonym"
                },
                {
                    "name": "NANOS",
                    "type": "synonym"
                },
                {
                    "name": "NOS",
                    "type": "synonym"
                },
                {
                    "name": "Nanos",
                    "type": "synonym"
                },
                {
                    "name": "Nos",
                    "type": "synonym"
                },
                {
                    "name": "l(3)07117",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j3B6",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j4B6",
                    "type": "synonym"
                },
                {
                    "name": "nNOS",
                    "type": "synonym"
                },
                {
                    "name": "nanos",
                    "type": "synonym"
                },
                {
                    "name": "nos",
                    "type": "synonym"
                }
            ],
            "record_id": "P25724-1",
            "evidence": [
                {
                    "id": "0070171",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070171"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070171"
}