{
    "disease_id": "DOID:0111928",
    "recommended_name": {
        "id": "DOID:0111928",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111928",
        "name": "spermatogenic failure 27",
        "description": "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111928",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111928",
            "name": "SPGF27",
            "description": ""
        },
        {
            "id": "MONDO:0054731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054731",
            "name": "spermatogenic failure 27",
            "description": ""
        },
        {
            "id": "MONDO:0054731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054731",
            "name": "spermatogenic failure 27",
            "description": ""
        },
        {
            "id": "MONDO:0054731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054731",
            "name": "SPGF27",
            "description": ""
        },
        {
            "id": "MIM:617965",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617965",
            "name": "Spermatogenic failure 27",
            "description": "Spermatogenic failure 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111928"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111928",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111928",
            "categories": []
        },
        {
            "id": "MONDO:0054731",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054731",
            "categories": []
        },
        {
            "id": "MIM:617965",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617965",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NTC8-1",
            "uniprot_ac": "A0A8M1NTC8",
            "uniprot_id": "A0A8M1NTC8_DANRE",
            "refseq_ac": "NP_001166036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate kinase 7a",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 7a",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ak7a",
                    "type": "recommended"
                },
                {
                    "name": "ak7a",
                    "type": "synonym"
                },
                {
                    "name": "ak7",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-199l3.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NTC8-1",
            "evidence": [
                {
                    "id": "0111928",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111928"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QF80-1",
            "uniprot_ac": "F1QF80",
            "uniprot_id": "F1QF80_DANRE",
            "refseq_ac": "NP_001103168",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ak7b",
                    "type": "recommended"
                },
                {
                    "name": "ak7b",
                    "type": "synonym"
                },
                {
                    "name": "im:7150989",
                    "type": "synonym"
                },
                {
                    "name": "zgc:165635",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QF80-1",
            "evidence": [
                {
                    "id": "0111928",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111928"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D2H2-2",
            "uniprot_ac": "Q9D2H2",
            "uniprot_id": "KAD7_MOUSE",
            "refseq_ac": "NP_084463",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "2.7.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AK 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 7",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "putative adenylate kinase 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ak7",
                    "type": "recommended"
                },
                {
                    "name": "4930502N02Rik",
                    "type": "synonym"
                },
                {
                    "name": "AK 7",
                    "type": "synonym"
                },
                {
                    "name": "Ak7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D2H2-2",
            "evidence": [
                {
                    "id": "0111928",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111928"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96M32-1",
            "uniprot_ac": "Q96M32",
            "uniprot_id": "KAD7_HUMAN",
            "refseq_ac": "NP_689540",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.4.3",
                    "type": "synonym"
                },
                {
                    "name": "2.7.4.6",
                    "type": "synonym"
                },
                {
                    "name": "AK 7",
                    "type": "synonym"
                },
                {
                    "name": "ATP-AMP transphosphorylase 7",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "putative adenylate kinase 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AK7",
                    "type": "recommended"
                },
                {
                    "name": "AK 7",
                    "type": "synonym"
                },
                {
                    "name": "AK7",
                    "type": "synonym"
                },
                {
                    "name": "CFAP75",
                    "type": "synonym"
                },
                {
                    "name": "FAP75",
                    "type": "synonym"
                },
                {
                    "name": "SPGF27",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96M32-1",
            "evidence": [
                {
                    "id": "617965",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617965"
                },
                {
                    "id": "0111928",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111928"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LVX3-1",
            "uniprot_ac": "A0ABK0LVX3",
            "uniprot_id": "A0ABK0LVX3_RAT",
            "refseq_ac": "NP_001101525",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "adenylate kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "putative adenylate kinase 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ak7",
                    "type": "recommended"
                },
                {
                    "name": "Ak7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LVX3-1",
            "evidence": [
                {
                    "id": "0111928",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111928"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111928"
}