{
    "disease_id": "DOID:0111916",
    "recommended_name": {
        "id": "DOID:0111916",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111916",
        "name": "spermatogenic failure 28",
        "description": "A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111916",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111916",
            "name": "SPGF28",
            "description": ""
        },
        {
            "id": "MONDO:0054732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054732",
            "name": "spermatogenic failure 28",
            "description": ""
        },
        {
            "id": "MONDO:0054732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054732",
            "name": "spermatogenic failure 28",
            "description": ""
        },
        {
            "id": "MONDO:0054732",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054732",
            "name": "SPGF28",
            "description": ""
        },
        {
            "id": "MIM:618086",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618086",
            "name": "Spermatogenic failure 28",
            "description": "Spermatogenic failure 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111916"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111916",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111916",
            "categories": []
        },
        {
            "id": "MONDO:0054732",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054732",
            "categories": []
        },
        {
            "id": "MIM:618086",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618086",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BGE5-1",
            "uniprot_ac": "Q8BGE5",
            "uniprot_id": "FANCM_MOUSE",
            "refseq_ac": "NP_849243",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group M protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase FANCM",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group M protein homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACM",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group M protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancm",
                    "type": "recommended"
                },
                {
                    "name": "C730036B14Rik",
                    "type": "synonym"
                },
                {
                    "name": "D12Ertd364e",
                    "type": "synonym"
                },
                {
                    "name": "Fancm",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1596",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGE5-1",
            "evidence": [
                {
                    "id": "0111916",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111916"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IYD8-1",
            "uniprot_ac": "Q8IYD8",
            "uniprot_id": "FANCM_HUMAN",
            "refseq_ac": "NP_001295062",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi anemia group M protein",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase FANCM",
                    "type": "synonym"
                },
                {
                    "name": "FAAP250",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia complementation group M",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group M protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia-associated polypeptide of 250 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACM",
                    "type": "synonym"
                },
                {
                    "name": "Protein Hef ortholog",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group M protein",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia-associated polypeptide of 250 kDa",
                    "type": "synonym"
                },
                {
                    "name": "protein Hef ortholog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FANCM",
                    "type": "recommended"
                },
                {
                    "name": "FAAP250",
                    "type": "synonym"
                },
                {
                    "name": "FANCM",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1596",
                    "type": "synonym"
                },
                {
                    "name": "POF15",
                    "type": "synonym"
                },
                {
                    "name": "SPGF28",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IYD8-1",
            "evidence": [
                {
                    "id": "618086",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618086"
                },
                {
                    "id": "0111916",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111916"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40562-1",
            "uniprot_ac": "P40562",
            "uniprot_id": "MPH1_YEAST",
            "refseq_ac": "NP_012267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent DNA helicase MPH1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' DNA helicase",
                    "type": "synonym"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "DNA 3'-5' helicase MPH1",
                    "type": "synonym"
                },
                {
                    "name": "FANCM-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mutator phenotype protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPH1",
                    "type": "recommended"
                },
                {
                    "name": "MPH1",
                    "type": "synonym"
                },
                {
                    "name": "YIB2C",
                    "type": "synonym"
                }
            ],
            "record_id": "P40562-1",
            "evidence": [
                {
                    "id": "0111916",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111916"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K7F0-1",
            "uniprot_ac": "A0A0G2K7F0",
            "uniprot_id": "A0A0G2K7F0_RAT",
            "refseq_ac": "NP_001414592",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase FANCM",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group M protein",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia, complementation group M",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancm",
                    "type": "recommended"
                },
                {
                    "name": "Fancm",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307897",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K7F0-1",
            "evidence": [
                {
                    "id": "0111916",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111916"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDA0-1",
            "uniprot_ac": "Q9VDA0",
            "uniprot_id": "FANCM_DROME",
            "refseq_ac": "NP_001262806",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DEAD-box ATP-dependent DNA helicase Fancm",
                    "type": "recommended"
                },
                {
                    "name": "5.6.2.4",
                    "type": "synonym"
                },
                {
                    "name": "CG7922-PB",
                    "type": "synonym"
                },
                {
                    "name": "Fancm-PB",
                    "type": "synonym"
                },
                {
                    "name": "Fanconi anemia group M protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein FACM homolog",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group M (FANCM) helicase",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia group M helicase, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fancm",
                    "type": "recommended"
                },
                {
                    "name": "CG7922",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7922",
                    "type": "synonym"
                },
                {
                    "name": "Fancm",
                    "type": "synonym"
                },
                {
                    "name": "cg7922",
                    "type": "synonym"
                },
                {
                    "name": "fancm",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDA0-1",
            "evidence": [
                {
                    "id": "0111916",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111916"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111916"
}