{
    "disease_id": "DOID:0080499",
    "recommended_name": {
        "id": "DOID:0080499",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080499",
        "name": "ovarian dysgenesis 7",
        "description": "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0020857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020857",
            "name": "ovarian dysgenesis 7",
            "description": ""
        },
        {
            "id": "MONDO:0020857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020857",
            "name": "ODG7",
            "description": ""
        },
        {
            "id": "MONDO:0020857",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020857",
            "name": "OVARIAN DYSGENESIS 7",
            "description": ""
        },
        {
            "id": "MIM:618117",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618117",
            "name": "Ovarian dysgenesis 7",
            "description": "Ovarian dysgenesis 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080499"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080499",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080499",
            "categories": []
        },
        {
            "id": "MONDO:0020857",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020857",
            "categories": []
        },
        {
            "id": "MIM:618117",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618117",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CXW2-1",
            "uniprot_ac": "Q9CXW2",
            "uniprot_id": "RT22_MOUSE",
            "refseq_ac": "NP_079761",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS22",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S22, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S22",
                    "type": "synonym"
                },
                {
                    "name": "S22mt",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein, mitochondrial, S22",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrps22",
                    "type": "recommended"
                },
                {
                    "name": "3100002P07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mrps22",
                    "type": "synonym"
                },
                {
                    "name": "Rpms22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CXW2-1",
            "evidence": [
                {
                    "id": "0080499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P82650-1",
            "uniprot_ac": "P82650",
            "uniprot_id": "RT22_HUMAN",
            "refseq_ac": "NP_064576",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS22",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S22, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S22",
                    "type": "synonym"
                },
                {
                    "name": "S22mt",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein mS22",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS22 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPS22",
                    "type": "recommended"
                },
                {
                    "name": "C3orf5",
                    "type": "synonym"
                },
                {
                    "name": "COXPD5",
                    "type": "synonym"
                },
                {
                    "name": "GIBT",
                    "type": "synonym"
                },
                {
                    "name": "GK002",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S22",
                    "type": "synonym"
                },
                {
                    "name": "MRPS22",
                    "type": "synonym"
                },
                {
                    "name": "ODG7",
                    "type": "synonym"
                },
                {
                    "name": "RPMS22",
                    "type": "synonym"
                },
                {
                    "name": "mS22",
                    "type": "synonym"
                }
            ],
            "record_id": "P82650-1",
            "evidence": [
                {
                    "id": "618117",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618117"
                },
                {
                    "id": "0080499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAY9-1",
            "uniprot_ac": "Q9VAY9",
            "uniprot_id": "Q9VAY9_DROME",
            "refseq_ac": "NP_524537",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12261-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribosomal protein S22",
                    "type": "synonym"
                },
                {
                    "name": "mRpS22-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein S22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpS22",
                    "type": "recommended"
                },
                {
                    "name": "AAF56757",
                    "type": "synonym"
                },
                {
                    "name": "CG12261",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12261",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12261",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S22",
                    "type": "synonym"
                },
                {
                    "name": "MRPS22",
                    "type": "synonym"
                },
                {
                    "name": "MrpS22",
                    "type": "synonym"
                },
                {
                    "name": "Mrps22",
                    "type": "synonym"
                },
                {
                    "name": "mRpS22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAY9-1",
            "evidence": [
                {
                    "id": "0080499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080499"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080499"
}