{
    "disease_id": "DOID:0070599",
    "recommended_name": {
        "id": "DOID:0070599",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070599",
        "name": "X-linked spermatogenic failure 8",
        "description": "A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070599",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070599",
            "name": "SPGFX8",
            "description": ""
        },
        {
            "id": "MONDO:0970943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0970943",
            "name": "spermatogenic failure, X-linked, 8",
            "description": ""
        },
        {
            "id": "MIM:301119",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301119",
            "name": "Spermatogenic failure, X-linked, 8",
            "description": "Spermatogenic failure, X-linked, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070599"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070599",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070599",
            "categories": []
        },
        {
            "id": "MONDO:0970943",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0970943",
            "categories": []
        },
        {
            "id": "MIM:301119",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301119",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A1B0GR13-1",
            "uniprot_ac": "A0A1B0GR13",
            "uniprot_id": "CYLC1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cylicin-1",
                    "type": "recommended"
                },
                {
                    "name": "Cylicin I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cylc1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A1B0GR13-1",
            "evidence": [
                {
                    "id": "0070599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35663-1",
            "uniprot_ac": "P35663",
            "uniprot_id": "CYLC1_HUMAN",
            "refseq_ac": "NP_066941",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cylicin-1",
                    "type": "recommended"
                },
                {
                    "name": "Cylicin I",
                    "type": "synonym"
                },
                {
                    "name": "Multiple-band polypeptide I",
                    "type": "synonym"
                },
                {
                    "name": "cylicin I",
                    "type": "synonym"
                },
                {
                    "name": "cylicin, basic protein of sperm head cytoskeleton 1",
                    "type": "synonym"
                },
                {
                    "name": "cylicin-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple-band polypeptide I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYLC1",
                    "type": "recommended"
                },
                {
                    "name": "CYCL1",
                    "type": "synonym"
                },
                {
                    "name": "CYL1",
                    "type": "synonym"
                },
                {
                    "name": "CYLC1",
                    "type": "synonym"
                },
                {
                    "name": "CYL",
                    "type": "synonym"
                },
                {
                    "name": "SPGFX8",
                    "type": "synonym"
                }
            ],
            "record_id": "P35663-1",
            "evidence": [
                {
                    "id": "301119",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301119"
                },
                {
                    "id": "0070599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G5P6-1",
            "uniprot_ac": "A0A8I6G5P6",
            "uniprot_id": "A0A8I6G5P6_RAT",
            "refseq_ac": "NP_001414531",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cylicin 1",
                    "type": "synonym"
                },
                {
                    "name": "cylicin, basic protein of sperm head cytoskeleton 1",
                    "type": "synonym"
                },
                {
                    "name": "cylicin-1",
                    "type": "synonym"
                },
                {
                    "name": "rCG38076-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cylc1",
                    "type": "recommended"
                },
                {
                    "name": "Cylc1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6G5P6-1",
            "evidence": [
                {
                    "id": "0070599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62986-1",
            "uniprot_ac": "Q62986",
            "uniprot_id": "ESR2_RAT",
            "refseq_ac": "NP_036886",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Estrogen receptor beta",
                    "type": "recommended"
                },
                {
                    "name": "ER-beta",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group A member 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor 2 (ER beta)",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor 2 beta",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 3 group A member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Esr2",
                    "type": "recommended"
                },
                {
                    "name": "ER-beta",
                    "type": "synonym"
                },
                {
                    "name": "ERbeta",
                    "type": "synonym"
                },
                {
                    "name": "Erb2",
                    "type": "synonym"
                },
                {
                    "name": "Erbeta",
                    "type": "synonym"
                },
                {
                    "name": "Esr2",
                    "type": "synonym"
                },
                {
                    "name": "Nr3a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62986-1",
            "evidence": [
                {
                    "id": "0070599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070599"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070599"
}