{
    "disease_id": "DOID:0070164",
    "recommended_name": {
        "id": "DOID:0070164",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070164",
        "name": "spermatogenic failure 2",
        "description": "A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the MSH4 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "DOID:0070164",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070164",
            "name": "SPGF2",
            "description": ""
        },
        {
            "id": "MONDO:0007161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007161",
            "name": "spermatogenic failure 2",
            "description": ""
        },
        {
            "id": "MONDO:0007161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007161",
            "name": "SPGF2",
            "description": ""
        },
        {
            "id": "MONDO:0007161",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007161",
            "name": "spermatogenic failure 2",
            "description": ""
        },
        {
            "id": "MIM:108420",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108420",
            "name": "Spermatogenic failure 2",
            "description": "Spermatogenic failure 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070164"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070164",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070164",
            "categories": []
        },
        {
            "id": "MONDO:0007161",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007161",
            "categories": []
        },
        {
            "id": "MIM:108420",
            "database": "MIM",
            "url": "https://www.omim.org/entry/108420",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T720-1",
            "uniprot_ac": "A0AB32T720",
            "uniprot_id": "A0AB32T720_DANRE",
            "refseq_ac": "XP_068070735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "MutS protein homolog 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "mutS protein homolog 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "msh4",
                    "type": "recommended"
                },
                {
                    "name": "msh4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T720-1",
            "evidence": [
                {
                    "id": "0070164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99MT2-1",
            "uniprot_ac": "Q99MT2",
            "uniprot_id": "MSH4_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "MutS protein homolog 4",
                    "type": "recommended"
                },
                {
                    "name": "mMsh4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msh4",
                    "type": "recommended"
                }
            ],
            "record_id": "Q99MT2-1",
            "evidence": [
                {
                    "id": "0070164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15457-1",
            "uniprot_ac": "O15457",
            "uniprot_id": "MSH4_HUMAN",
            "refseq_ac": "NP_002431",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "MutS protein homolog 4",
                    "type": "recommended"
                },
                {
                    "name": "hMSH4",
                    "type": "synonym"
                },
                {
                    "name": "mutS protein homolog 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSH4",
                    "type": "recommended"
                },
                {
                    "name": "ASG",
                    "type": "synonym"
                },
                {
                    "name": "MSH4",
                    "type": "synonym"
                },
                {
                    "name": "POF20",
                    "type": "synonym"
                },
                {
                    "name": "SPGF2",
                    "type": "synonym"
                }
            ],
            "record_id": "O15457-1",
            "evidence": [
                {
                    "id": "108420",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/108420"
                },
                {
                    "id": "0070164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40965-1",
            "uniprot_ac": "P40965",
            "uniprot_id": "MSH4_YEAST",
            "refseq_ac": "NP_116652",
            "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": "MutS protein homolog 4",
                    "type": "recommended"
                },
                {
                    "name": "MutS family protein MSH4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSH4",
                    "type": "recommended"
                },
                {
                    "name": "MSH4",
                    "type": "synonym"
                }
            ],
            "record_id": "P40965-1",
            "evidence": [
                {
                    "id": "0070164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070164"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M9U4-1",
            "uniprot_ac": "F1M9U4",
            "uniprot_id": "F1M9U4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "MutS protein homolog 4",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Msh4",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M9U4-1",
            "evidence": [
                {
                    "id": "0070164",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070164"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070164"
}