{
    "disease_id": "DOID:0070585",
    "recommended_name": {
        "id": "DOID:0070585",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070585",
        "name": "spermatogenic failure 86",
        "description": "A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070585",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070585",
            "name": "SPGF86",
            "description": ""
        },
        {
            "id": "MONDO:0957593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957593",
            "name": "spermatogenic failure 86",
            "description": ""
        },
        {
            "id": "MIM:620499",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620499",
            "name": "Spermatogenic failure 86",
            "description": "Spermatogenic failure 86"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070585"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070585",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070585",
            "categories": []
        },
        {
            "id": "MONDO:0957593",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957593",
            "categories": []
        },
        {
            "id": "MIM:620499",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620499",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QY84-1",
            "uniprot_ac": "Q9QY84",
            "uniprot_id": "ACL7A_MOUSE",
            "refseq_ac": "NP_033741",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-like protein 7A",
                    "type": "recommended"
                },
                {
                    "name": "Actin-like-7-alpha",
                    "type": "synonym"
                },
                {
                    "name": "T-actin-2",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific actin-2",
                    "type": "synonym"
                },
                {
                    "name": "actin-like Tact2",
                    "type": "synonym"
                },
                {
                    "name": "actin-like protein 7A",
                    "type": "synonym"
                },
                {
                    "name": "actin-like-7-alpha",
                    "type": "synonym"
                },
                {
                    "name": "t-actin 2",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific actin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actl7a",
                    "type": "recommended"
                },
                {
                    "name": "Actl7a",
                    "type": "synonym"
                },
                {
                    "name": "Tact2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QY84-1",
            "evidence": [
                {
                    "id": "0070585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y615-1",
            "uniprot_ac": "Q9Y615",
            "uniprot_id": "ACL7A_HUMAN",
            "refseq_ac": "NP_006678",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-like protein 7A",
                    "type": "recommended"
                },
                {
                    "name": "Actin-like-7-alpha",
                    "type": "synonym"
                },
                {
                    "name": "actin-like 7-alpha",
                    "type": "synonym"
                },
                {
                    "name": "actin-like protein 7A",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACTL7A",
                    "type": "recommended"
                },
                {
                    "name": "ACTL7A",
                    "type": "synonym"
                },
                {
                    "name": "SPGF86",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y615-1",
            "evidence": [
                {
                    "id": "620499",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620499"
                },
                {
                    "id": "0070585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60010-1",
            "uniprot_ac": "P60010",
            "uniprot_id": "ACT_YEAST",
            "refseq_ac": "NP_116614",
            "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": "Actin",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACT1",
                    "type": "recommended"
                },
                {
                    "name": "ABY1",
                    "type": "synonym"
                },
                {
                    "name": "ACT1",
                    "type": "synonym"
                },
                {
                    "name": "END7",
                    "type": "synonym"
                }
            ],
            "record_id": "P60010-1",
            "evidence": [
                {
                    "id": "0070585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q641W9-1",
            "uniprot_ac": "Q641W9",
            "uniprot_id": "ACL7A_RAT",
            "refseq_ac": "NP_001011973",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-like protein 7A",
                    "type": "recommended"
                },
                {
                    "name": "actin-like protein 7A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actl7a",
                    "type": "recommended"
                },
                {
                    "name": "Actl7a",
                    "type": "synonym"
                },
                {
                    "name": "Arp7a",
                    "type": "synonym"
                },
                {
                    "name": "T-actin 2",
                    "type": "synonym"
                },
                {
                    "name": "Tact2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q641W9-1",
            "evidence": [
                {
                    "id": "0070585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070585"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45891-1",
            "uniprot_ac": "P45891",
            "uniprot_id": "ACTY_DROME",
            "refseq_ac": "NP_477037",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin-like protein 53D",
                    "type": "recommended"
                },
                {
                    "name": "Actin-related protein 53D",
                    "type": "synonym"
                },
                {
                    "name": "Arp53D-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG5409-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arp53D",
                    "type": "recommended"
                },
                {
                    "name": "ARP53D",
                    "type": "synonym"
                },
                {
                    "name": "Actr53D",
                    "type": "synonym"
                },
                {
                    "name": "Arp53D",
                    "type": "synonym"
                },
                {
                    "name": "ArpG",
                    "type": "synonym"
                },
                {
                    "name": "Arp_G",
                    "type": "synonym"
                },
                {
                    "name": "CG5409",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5409",
                    "type": "synonym"
                },
                {
                    "name": "arp53D",
                    "type": "synonym"
                },
                {
                    "name": "arp5",
                    "type": "synonym"
                }
            ],
            "record_id": "P45891-1",
            "evidence": [
                {
                    "id": "0070585",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070585"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070585"
}