{
    "disease_id": "DOID:0070174",
    "recommended_name": {
        "id": "DOID:0070174",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070174",
        "name": "spermatogenic failure 17",
        "description": "A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "DOID:0070174",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070174",
            "name": "Male infertility due to oocyte activation failure",
            "description": ""
        },
        {
            "id": "DOID:0070174",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070174",
            "name": "SPGF17",
            "description": ""
        },
        {
            "id": "MONDO:0014970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014970",
            "name": "spermatogenic failure 17",
            "description": "Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene."
        },
        {
            "id": "MONDO:0014970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014970",
            "name": "PLCZ1 azoospermia",
            "description": ""
        },
        {
            "id": "MONDO:0014970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014970",
            "name": "SPGF17",
            "description": ""
        },
        {
            "id": "MONDO:0014970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014970",
            "name": "azoospermia caused by mutation in PLCZ1",
            "description": ""
        },
        {
            "id": "MONDO:0014970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014970",
            "name": "spermatogenic failure 17",
            "description": ""
        },
        {
            "id": "MONDO:0014970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014970",
            "name": "spermatogenic failure 17; SPGF17",
            "description": ""
        },
        {
            "id": "MONDO:0014970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014970",
            "name": "spermatogenic failure type 17",
            "description": ""
        },
        {
            "id": "MIM:617214",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617214",
            "name": "Spermatogenic failure 17",
            "description": "Spermatogenic failure 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070174"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070174",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070174",
            "categories": []
        },
        {
            "id": "MONDO:0014970",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014970",
            "categories": []
        },
        {
            "id": "MIM:617214",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617214",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K4D7-1",
            "uniprot_ac": "Q8K4D7",
            "uniprot_id": "PLCZ1_MOUSE",
            "refseq_ac": "NP_473407",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase C zeta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plcz1",
                    "type": "recommended"
                },
                {
                    "name": "1700041H07Rik",
                    "type": "synonym"
                },
                {
                    "name": "PLCzeta",
                    "type": "synonym"
                },
                {
                    "name": "Plcz1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K4D7-1",
            "evidence": [
                {
                    "id": "0070174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86YW0-1",
            "uniprot_ac": "Q86YW0",
            "uniprot_id": "PLCZ1_HUMAN",
            "refseq_ac": "NP_001317698",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PI-phospholipase C zeta 1",
                    "type": "synonym"
                },
                {
                    "name": "PLC-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "Testis-development protein NYD-SP27",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 145",
                    "type": "synonym"
                },
                {
                    "name": "testis-development related NYD-SP27",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLCZ1",
                    "type": "recommended"
                },
                {
                    "name": "Czeta",
                    "type": "synonym"
                },
                {
                    "name": "NYD-SP27",
                    "type": "synonym"
                },
                {
                    "name": "PLC-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "PLCZ1",
                    "type": "synonym"
                },
                {
                    "name": "PLCzeta",
                    "type": "synonym"
                },
                {
                    "name": "SPGF17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86YW0-1",
            "evidence": [
                {
                    "id": "617214",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617214"
                },
                {
                    "id": "0070174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32383-1",
            "uniprot_ac": "P32383",
            "uniprot_id": "PLC1_YEAST",
            "refseq_ac": "NP_015055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol phospholipase C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLC1",
                    "type": "recommended"
                },
                {
                    "name": "PLC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32383-1",
            "evidence": [
                {
                    "id": "0070174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070174"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FX52-1",
            "uniprot_ac": "Q5FX52",
            "uniprot_id": "PLCZ1_RAT",
            "refseq_ac": "NP_001012234",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.11",
                    "type": "synonym"
                },
                {
                    "name": "PLC-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoinositide phospholipase C-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase C-zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide phospholipase C-zeta-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Plcz1",
                    "type": "recommended"
                },
                {
                    "name": "Plcz1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FX52-1",
            "evidence": [
                {
                    "id": "0070174",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070174"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070174"
}