{
    "disease_id": "DOID:0070567",
    "recommended_name": {
        "id": "DOID:0070567",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070567",
        "name": "spermatogenic failure 68",
        "description": "A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the C2CD6 gene on chromosome 2q33.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070567",
            "name": "SPGF68",
            "description": ""
        },
        {
            "id": "MONDO:0030721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030721",
            "name": "spermatogenic failure 68",
            "description": ""
        },
        {
            "id": "MONDO:0030721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030721",
            "name": "SPGF68",
            "description": ""
        },
        {
            "id": "MONDO:0030721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030721",
            "name": "spermatogenic failure 68",
            "description": ""
        },
        {
            "id": "MIM:619805",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619805",
            "name": "Spermatogenic failure 68",
            "description": "Spermatogenic failure 68"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070567"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070567",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070567",
            "categories": []
        },
        {
            "id": "MONDO:0030721",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030721",
            "categories": []
        },
        {
            "id": "MIM:619805",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619805",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A5F8MPU3-1",
            "uniprot_ac": "A0A5F8MPU3",
            "uniprot_id": "CTSRT_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cation channel sperm-associated targeting subunit tau",
                    "type": "recommended"
                },
                {
                    "name": "C2 calcium-dependent domain-containing 6",
                    "type": "synonym"
                },
                {
                    "name": "CatSper-tau",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C2cd6",
                    "type": "recommended"
                },
                {
                    "name": "Catspert",
                    "type": "recommended"
                },
                {
                    "name": "Als2cr11",
                    "type": "synonym"
                },
                {
                    "name": "C2cd6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A5F8MPU3-1",
            "evidence": [
                {
                    "id": "0070567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q53TS8-4",
            "uniprot_ac": "Q53TS8",
            "uniprot_id": "CTSRT_HUMAN",
            "refseq_ac": "NP_001161688",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cation channel sperm-associated targeting subunit tau",
                    "type": "recommended"
                },
                {
                    "name": "Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein",
                    "type": "synonym"
                },
                {
                    "name": "C2 calcium dependent domain containing 6",
                    "type": "synonym"
                },
                {
                    "name": "C2 calcium-dependent domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "CatSper-tau",
                    "type": "synonym"
                },
                {
                    "name": "Catsper channel auxiliary subunit tau",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosome region candidate 11",
                    "type": "synonym"
                },
                {
                    "name": "catSper-tau",
                    "type": "synonym"
                },
                {
                    "name": "cation channel sperm-associated targeting subunit tau isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "cation channel sperm-associated targeting subunit tau",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CATSPERT",
                    "type": "recommended"
                },
                {
                    "name": "ALS2CR11",
                    "type": "synonym"
                },
                {
                    "name": "C2CD6",
                    "type": "synonym"
                },
                {
                    "name": "CATSPERT",
                    "type": "synonym"
                },
                {
                    "name": "SPGF68",
                    "type": "synonym"
                }
            ],
            "record_id": "Q53TS8-4",
            "evidence": [
                {
                    "id": "619805",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619805"
                },
                {
                    "id": "0070567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G3E6-1",
            "uniprot_ac": "A0A8I6G3E6",
            "uniprot_id": "A0A8I6G3E6_RAT",
            "refseq_ac": "NP_001395988",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "C2 calcium dependent domain containing 6",
                    "type": "synonym"
                },
                {
                    "name": "C2 calcium-dependent domain-containing protein 6",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein",
                    "type": "synonym"
                },
                {
                    "name": "amyotrophic lateral sclerosis 2 chromosome region, candidate 11",
                    "type": "synonym"
                },
                {
                    "name": "cation channel sperm-associated targeting subunit tau isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cation channel sperm-associated targeting subunit tau",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Catspert",
                    "type": "recommended"
                },
                {
                    "name": "Als2cr11",
                    "type": "synonym"
                },
                {
                    "name": "C2cd6",
                    "type": "synonym"
                },
                {
                    "name": "Catspert",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6G3E6-1",
            "evidence": [
                {
                    "id": "0070567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070567"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070567"
}