{
    "disease_id": "DOID:0070578",
    "recommended_name": {
        "id": "DOID:0070578",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070578",
        "name": "spermatogenic failure 79",
        "description": "A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070578",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070578",
            "name": "SPGF79",
            "description": ""
        },
        {
            "id": "MONDO:0859352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859352",
            "name": "spermatogenic failure 79",
            "description": ""
        },
        {
            "id": "MIM:620196",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620196",
            "name": "Spermatogenic failure 79",
            "description": "Spermatogenic failure 79"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070578"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070578",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070578",
            "categories": []
        },
        {
            "id": "MONDO:0859352",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859352",
            "categories": []
        },
        {
            "id": "MIM:620196",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620196",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O54982-1",
            "uniprot_ac": "O54982",
            "uniprot_id": "KCNU1_MOUSE",
            "refseq_ac": "NP_032458",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily U member 1",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-activated potassium channel subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-activated potassium channel, subfamily M subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "KSper",
                    "type": "synonym"
                },
                {
                    "name": "Pore-forming subunit of the sperm-specific alkalization activated K(+) current",
                    "type": "synonym"
                },
                {
                    "name": "Slowpoke homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated potassium channel subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated potassium channel, subfamily M subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "mSlo3",
                    "type": "synonym"
                },
                {
                    "name": "pH-sensitive maxi potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "pore-forming subunit of the sperm-specific alkalization activated K(+) current",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily U member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium large conductance pH-sensitive channel, subfamily M, alpha member 3",
                    "type": "synonym"
                },
                {
                    "name": "slowpoke homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnu1",
                    "type": "recommended"
                },
                {
                    "name": "Kcnma3",
                    "type": "synonym"
                },
                {
                    "name": "Kcnu1",
                    "type": "synonym"
                },
                {
                    "name": "Ksper",
                    "type": "synonym"
                },
                {
                    "name": "Slo3",
                    "type": "synonym"
                },
                {
                    "name": "mSlo3",
                    "type": "synonym"
                }
            ],
            "record_id": "O54982-1",
            "evidence": [
                {
                    "id": "0070578",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070578"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8MYU2-1",
            "uniprot_ac": "A8MYU2",
            "uniprot_id": "KCNU1_HUMAN",
            "refseq_ac": "NP_001027006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily U member 1",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-activated potassium channel subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-activated potassium channel, subfamily M subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "KCa5",
                    "type": "synonym"
                },
                {
                    "name": "Slowpoke homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily U member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, subfamily U, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNU1",
                    "type": "recommended"
                },
                {
                    "name": "KCNMA3",
                    "type": "synonym"
                },
                {
                    "name": "KCNMC1",
                    "type": "synonym"
                },
                {
                    "name": "KCNU1",
                    "type": "synonym"
                },
                {
                    "name": "KCa5.1",
                    "type": "synonym"
                },
                {
                    "name": "KCa5",
                    "type": "synonym"
                },
                {
                    "name": "Kcnma3",
                    "type": "synonym"
                },
                {
                    "name": "SLO3",
                    "type": "synonym"
                },
                {
                    "name": "SPGF79",
                    "type": "synonym"
                },
                {
                    "name": "Slo3",
                    "type": "synonym"
                }
            ],
            "record_id": "A8MYU2-1",
            "evidence": [
                {
                    "id": "620196",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620196"
                },
                {
                    "id": "0070578",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070578"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A6Z8-1",
            "uniprot_ac": "D4A6Z8",
            "uniprot_id": "KCNU1_RAT",
            "refseq_ac": "XP_063132048",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel subfamily U member 1",
                    "type": "recommended"
                },
                {
                    "name": "BK channel",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-activated potassium channel subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "KCa5.1",
                    "type": "synonym"
                },
                {
                    "name": "KSper",
                    "type": "synonym"
                },
                {
                    "name": "Pore-forming subunit of the sperm-specific alkalization activated K(+) current",
                    "type": "synonym"
                },
                {
                    "name": "Slowpoke homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subfamily U member 1 isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "rSlo3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnu1",
                    "type": "recommended"
                },
                {
                    "name": "Kcnma3",
                    "type": "synonym"
                },
                {
                    "name": "Kcnu1",
                    "type": "synonym"
                },
                {
                    "name": "Ksper",
                    "type": "synonym"
                },
                {
                    "name": "Slo3",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A6Z8-1",
            "evidence": [
                {
                    "id": "0070578",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070578"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03720-1",
            "uniprot_ac": "Q03720",
            "uniprot_id": "SLO_DROME",
            "refseq_ac": "NP_001014651",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-activated potassium channel slowpoke",
                    "type": "recommended"
                },
                {
                    "name": "BK channel",
                    "type": "synonym"
                },
                {
                    "name": "CG10693-PQ",
                    "type": "synonym"
                },
                {
                    "name": "Maxi K channel",
                    "type": "synonym"
                },
                {
                    "name": "MaxiK",
                    "type": "synonym"
                },
                {
                    "name": "dSlo",
                    "type": "synonym"
                },
                {
                    "name": "slo-PQ",
                    "type": "synonym"
                },
                {
                    "name": "slowpoke, isoform Q",
                    "type": "synonym"
                },
                {
                    "name": "slowpoke",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slo",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH10751",
                    "type": "synonym"
                },
                {
                    "name": "CG10693",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10693",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10693",
                    "type": "synonym"
                },
                {
                    "name": "Dslo",
                    "type": "synonym"
                },
                {
                    "name": "SLO",
                    "type": "synonym"
                },
                {
                    "name": "Slo1",
                    "type": "synonym"
                },
                {
                    "name": "Slo",
                    "type": "synonym"
                },
                {
                    "name": "dSlo1",
                    "type": "synonym"
                },
                {
                    "name": "dSlo",
                    "type": "synonym"
                },
                {
                    "name": "dslo",
                    "type": "synonym"
                },
                {
                    "name": "fSlo",
                    "type": "synonym"
                },
                {
                    "name": "slo",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03720-1",
            "evidence": [
                {
                    "id": "0070578",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070578"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070578"
}