{
    "disease_id": "DOID:0061073",
    "recommended_name": {
        "id": "DOID:0061073",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061073",
        "name": "Perrault syndrome 7",
        "description": "A Perrault syndrome that is characterized by sensorineural hearing loss and ovarian insufficiency in females and that has_material_basis_in compound heterozygous or homozygous mutation in the DAP3 gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0061073",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061073",
            "name": "PRLTS7",
            "description": ""
        },
        {
            "id": "MONDO:0976232",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976232",
            "name": "Perrault syndrome 7",
            "description": ""
        },
        {
            "id": "MIM:621101",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621101",
            "name": "Perrault syndrome 7",
            "description": "Perrault syndrome 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061073"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061073",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061073",
            "categories": []
        },
        {
            "id": "MONDO:0976232",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0976232",
            "categories": []
        },
        {
            "id": "MIM:621101",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621101",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9ER88-1",
            "uniprot_ac": "Q9ER88",
            "uniprot_id": "RT29_MOUSE",
            "refseq_ac": "NP_001158005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS29",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S29, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "DAP-3",
                    "type": "synonym"
                },
                {
                    "name": "Death-associated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S29",
                    "type": "synonym"
                },
                {
                    "name": "S29mt",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS29 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dap3",
                    "type": "recommended"
                },
                {
                    "name": "4921514D13Rik",
                    "type": "synonym"
                },
                {
                    "name": "DAP-3",
                    "type": "synonym"
                },
                {
                    "name": "Dap3",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S29",
                    "type": "synonym"
                },
                {
                    "name": "Mrps29",
                    "type": "synonym"
                },
                {
                    "name": "S29mt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ER88-1",
            "evidence": [
                {
                    "id": "0061073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51398-1",
            "uniprot_ac": "P51398",
            "uniprot_id": "RT29_HUMAN",
            "refseq_ac": "NP_001186778",
            "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 mS29",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S29, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "DAP-3",
                    "type": "synonym"
                },
                {
                    "name": "Death-associated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Ionizing radiation resistance conferring protein",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S29",
                    "type": "synonym"
                },
                {
                    "name": "S29mt",
                    "type": "synonym"
                },
                {
                    "name": "ionizing radiation resistance conferring protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 28S ribosomal protein S29",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein mS29",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS29 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAP3",
                    "type": "recommended"
                },
                {
                    "name": "DAP-3",
                    "type": "synonym"
                },
                {
                    "name": "DAP3",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S29",
                    "type": "synonym"
                },
                {
                    "name": "MRPS29",
                    "type": "synonym"
                },
                {
                    "name": "PRLTS7",
                    "type": "synonym"
                },
                {
                    "name": "S29mt",
                    "type": "synonym"
                },
                {
                    "name": "bMRP-10",
                    "type": "synonym"
                },
                {
                    "name": "mS29",
                    "type": "synonym"
                }
            ],
            "record_id": "P51398-1",
            "evidence": [
                {
                    "id": "621101",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621101"
                },
                {
                    "id": "0061073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01163-1",
            "uniprot_ac": "Q01163",
            "uniprot_id": "RT23_YEAST",
            "refseq_ac": "NP_011386",
            "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": "Small ribosomal subunit protein mS29",
                    "type": "recommended"
                },
                {
                    "name": "37S ribosomal protein S23, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "DAP-3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 37S ribosomal protein mS29 RSM23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RSM23",
                    "type": "recommended"
                },
                {
                    "name": "G2856",
                    "type": "synonym"
                },
                {
                    "name": "RSM23",
                    "type": "synonym"
                },
                {
                    "name": "mS29",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01163-1",
            "evidence": [
                {
                    "id": "0061073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K264-1",
            "uniprot_ac": "A0A0G2K264",
            "uniprot_id": "A0A0G2K264_RAT",
            "refseq_ac": "XP_063137679",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS29",
                    "type": "recommended"
                },
                {
                    "name": "small ribosomal subunit protein mS29 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dap3",
                    "type": "recommended"
                },
                {
                    "name": "Dap3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K264-1",
            "evidence": [
                {
                    "id": "0061073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z217-1",
            "uniprot_ac": "Q9Z217",
            "uniprot_id": "GDF11_RAT",
            "refseq_ac": "NP_058899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 11",
                    "type": "recommended"
                },
                {
                    "name": "BMP-11",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 11",
                    "type": "synonym"
                },
                {
                    "name": "GDF-11",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 11",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 11 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf11",
                    "type": "recommended"
                },
                {
                    "name": "BMP-11",
                    "type": "synonym"
                },
                {
                    "name": "Bmp11",
                    "type": "synonym"
                },
                {
                    "name": "Gdf11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z217-1",
            "evidence": [
                {
                    "id": "0061073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061073"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W253-1",
            "uniprot_ac": "Q9W253",
            "uniprot_id": "Q9W253_DROME",
            "refseq_ac": "NP_523811",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS29",
                    "type": "recommended"
                },
                {
                    "name": "CG3633-PA",
                    "type": "synonym"
                },
                {
                    "name": "mRpS29-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein S29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpS29",
                    "type": "recommended"
                },
                {
                    "name": "CG3633",
                    "type": "synonym"
                },
                {
                    "name": "DAP3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3633",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3633",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S29",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.102",
                    "type": "synonym"
                },
                {
                    "name": "mRpS29",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W253-1",
            "evidence": [
                {
                    "id": "0061073",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061073"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061073"
}