{
    "disease_id": "DOID:0051023",
    "recommended_name": {
        "id": "DOID:0051023",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051023",
        "name": "visceral heterotaxy 9",
        "description": "A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030070",
            "name": "heterotaxy, visceral, 9, autosomal, with male infertility",
            "description": ""
        },
        {
            "id": "MONDO:0030070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030070",
            "name": "HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY",
            "description": ""
        },
        {
            "id": "MONDO:0030070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030070",
            "name": "HTX9",
            "description": ""
        },
        {
            "id": "MONDO:0030070",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030070",
            "name": "heterotaxy, visceral, 9, autosomal, with male infertility",
            "description": ""
        },
        {
            "id": "MIM:618948",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618948",
            "name": "Heterotaxy, visceral, 9, autosomal, with male infertility",
            "description": "Heterotaxy, visceral, 9, autosomal, with male infertility"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051023"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051023",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051023",
            "categories": []
        },
        {
            "id": "MONDO:0030070",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030070",
            "categories": []
        },
        {
            "id": "MIM:618948",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618948",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PBA8-1",
            "uniprot_ac": "Q6PBA8",
            "uniprot_id": "MNS1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meiosis-specific nuclear structural protein 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "mns1",
                    "type": "recommended"
                },
                {
                    "name": "zgc:65845",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PBA8-1",
            "evidence": [
                {
                    "id": "0051023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61884-1",
            "uniprot_ac": "Q61884",
            "uniprot_id": "MNS1_MOUSE",
            "refseq_ac": "NP_032639",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meiosis-specific nuclear structural protein 1",
                    "type": "recommended"
                },
                {
                    "name": "meiosis-specific nuclear structural protein 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mns1",
                    "type": "recommended"
                },
                {
                    "name": "Mns1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61884-1",
            "evidence": [
                {
                    "id": "0051023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEH6-1",
            "uniprot_ac": "Q8NEH6",
            "uniprot_id": "MNS1_HUMAN",
            "refseq_ac": "NP_060835",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meiosis-specific nuclear structural protein 1",
                    "type": "recommended"
                },
                {
                    "name": "cilia and flagella associated protein 127",
                    "type": "synonym"
                },
                {
                    "name": "meiosis-specific nuclear structural protein 1",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis associated 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MNS1",
                    "type": "recommended"
                },
                {
                    "name": "CFAP127",
                    "type": "synonym"
                },
                {
                    "name": "HTX9",
                    "type": "synonym"
                },
                {
                    "name": "MNS1",
                    "type": "synonym"
                },
                {
                    "name": "SPATA40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEH6-1",
            "evidence": [
                {
                    "id": "618948",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618948"
                },
                {
                    "id": "0051023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AXQ8-1",
            "uniprot_ac": "Q6AXQ8",
            "uniprot_id": "MNS1_RAT",
            "refseq_ac": "NP_001007753",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meiosis-specific nuclear structural protein 1",
                    "type": "recommended"
                },
                {
                    "name": "meiosis-specific nuclear structural protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mns1",
                    "type": "recommended"
                },
                {
                    "name": "Mns1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AXQ8-1",
            "evidence": [
                {
                    "id": "0051023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHR7-1",
            "uniprot_ac": "Q9VHR7",
            "uniprot_id": "Q9VHR7_DROME",
            "refseq_ac": "NP_649795",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Meiosis-specific nuclear structural protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CG7352-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7352",
                    "type": "recommended"
                },
                {
                    "name": "CG7352",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7352",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7352",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHR7-1",
            "evidence": [
                {
                    "id": "0051023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051023"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051023"
}