{
    "disease_id": "DOID:0070173",
    "recommended_name": {
        "id": "DOID:0070173",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070173",
        "name": "spermatogenic failure 7",
        "description": "A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070173",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070173",
            "name": "SPGF7",
            "description": ""
        },
        {
            "id": "MONDO:0013070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013070",
            "name": "spermatogenic failure 7",
            "description": ""
        },
        {
            "id": "MONDO:0013070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013070",
            "name": "spermatogenic failure 7",
            "description": ""
        },
        {
            "id": "MONDO:0013070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013070",
            "name": "spermatogenic failure type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013070",
            "name": "SPGF7",
            "description": ""
        },
        {
            "id": "MIM:612997",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612997",
            "name": "Spermatogenic failure 7",
            "description": "Spermatogenic failure 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070173"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070173",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070173",
            "categories": []
        },
        {
            "id": "MONDO:0013070",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013070",
            "categories": []
        },
        {
            "id": "MIM:612997",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612997",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91ZR5-1",
            "uniprot_ac": "Q91ZR5",
            "uniprot_id": "CTSR1_MOUSE",
            "refseq_ac": "NP_647462",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cation channel sperm-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CatSper1",
                    "type": "synonym"
                },
                {
                    "name": "cation channel sperm-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sperm calcium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "sperm ion channel",
                    "type": "synonym"
                },
                {
                    "name": "sperm protein CATSPER1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Catsper1",
                    "type": "recommended"
                },
                {
                    "name": "Catsper1",
                    "type": "synonym"
                },
                {
                    "name": "Catsper",
                    "type": "synonym"
                },
                {
                    "name": "KSper",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZR5-1",
            "evidence": [
                {
                    "id": "0070173",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070173"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEC5-1",
            "uniprot_ac": "Q8NEC5",
            "uniprot_id": "CTSR1_HUMAN",
            "refseq_ac": "NP_444282",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cation channel sperm-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CatSper1",
                    "type": "synonym"
                },
                {
                    "name": "cation channel sperm-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hCatSper",
                    "type": "synonym"
                },
                {
                    "name": "sperm ion channel",
                    "type": "synonym"
                },
                {
                    "name": "sperm-associated cation channel 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CATSPER1",
                    "type": "recommended"
                },
                {
                    "name": "CATSPER1",
                    "type": "synonym"
                },
                {
                    "name": "CATSPER",
                    "type": "synonym"
                },
                {
                    "name": "SPGF7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEC5-1",
            "evidence": [
                {
                    "id": "612997",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612997"
                },
                {
                    "id": "0070173",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070173"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A342-1",
            "uniprot_ac": "A0A8I6A342",
            "uniprot_id": "A0A8I6A342_RAT",
            "refseq_ac": "NP_001419527",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cation channel sperm-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "cation channel of sperm 1",
                    "type": "synonym"
                },
                {
                    "name": "cation channel sperm-associated protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cation channel sperm-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Catsper1",
                    "type": "recommended"
                },
                {
                    "name": "Catsper1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A342-1",
            "evidence": [
                {
                    "id": "0070173",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070173"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070173"
}