{
    "disease_id": "DOID:0110523",
    "recommended_name": {
        "id": "DOID:0110523",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110523",
        "name": "autosomal recessive nonsyndromic deafness 74",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110523",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110523",
            "name": "DFNB74",
            "description": ""
        },
        {
            "id": "DOID:0110523",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110523",
            "name": "autosomal recessive deafness 74",
            "description": ""
        },
        {
            "id": "MONDO:0013386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013386",
            "name": "autosomal recessive nonsyndromic hearing loss 74",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene."
        },
        {
            "id": "MONDO:0013386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013386",
            "name": "DFNB74",
            "description": ""
        },
        {
            "id": "MONDO:0013386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013386",
            "name": "MSRB3 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013386",
            "name": "autosomal recessive deafness 74",
            "description": ""
        },
        {
            "id": "MONDO:0013386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013386",
            "name": "autosomal recessive nonsyndromic deafness 74",
            "description": ""
        },
        {
            "id": "MONDO:0013386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013386",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in MSRB3",
            "description": ""
        },
        {
            "id": "MONDO:0013386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013386",
            "name": "autosomal recessive nonsyndromic deafness type 74",
            "description": ""
        },
        {
            "id": "MONDO:0013386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013386",
            "name": "deafness, autosomal recessive 74",
            "description": ""
        },
        {
            "id": "MONDO:0013386",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013386",
            "name": "deafness, autosomal recessive type 74",
            "description": ""
        },
        {
            "id": "MIM:613718",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613718",
            "name": "Deafness, autosomal recessive, 74",
            "description": "Deafness, autosomal recessive, 74"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110523"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110523",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110523",
            "categories": []
        },
        {
            "id": "MONDO:0013386",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013386",
            "categories": []
        },
        {
            "id": "MIM:613718",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613718",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5TZH6-1",
            "uniprot_ac": "Q5TZH6",
            "uniprot_id": "Q5TZH6_DANRE",
            "refseq_ac": "NP_001002094",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptide-methionine (R)-S-oxide reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.8.4.12",
                    "type": "synonym"
                },
                {
                    "name": "methionine-R-sulfoxide reductase B3 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "msrb3",
                    "type": "recommended"
                },
                {
                    "name": "msrb3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc07g04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86909",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TZH6-1",
            "evidence": [
                {
                    "id": "0110523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110523"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BU85-1",
            "uniprot_ac": "Q8BU85",
            "uniprot_id": "MSRB3_MOUSE",
            "refseq_ac": "NP_796066",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine-R-sulfoxide reductase B3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.8.4.12",
                    "type": "synonym"
                },
                {
                    "name": "1.8.4.14",
                    "type": "synonym"
                },
                {
                    "name": "MsrB3",
                    "type": "synonym"
                },
                {
                    "name": "methionine-R-sulfoxide reductase B3, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "methionine-R-sulfoxide reductase B3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msrb3",
                    "type": "recommended"
                },
                {
                    "name": "D430026P16Rik",
                    "type": "synonym"
                },
                {
                    "name": "I-8-23",
                    "type": "synonym"
                },
                {
                    "name": "MsrB2",
                    "type": "synonym"
                },
                {
                    "name": "Msrb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BU85-1",
            "evidence": [
                {
                    "id": "0110523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110523"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IXL7-1",
            "uniprot_ac": "Q8IXL7",
            "uniprot_id": "MSRB3_HUMAN",
            "refseq_ac": "NP_001026849",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine-R-sulfoxide reductase B3",
                    "type": "recommended"
                },
                {
                    "name": "1.8.4.12",
                    "type": "synonym"
                },
                {
                    "name": "1.8.4.14",
                    "type": "synonym"
                },
                {
                    "name": "MsrB3",
                    "type": "synonym"
                },
                {
                    "name": "methionine-R-sulfoxide reductase B3 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "methionine-R-sulfoxide reductase B3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSRB3",
                    "type": "recommended"
                },
                {
                    "name": "DFNB74",
                    "type": "synonym"
                },
                {
                    "name": "MSRB3",
                    "type": "synonym"
                },
                {
                    "name": "PRO4487",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IXL7-1",
            "evidence": [
                {
                    "id": "613718",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613718"
                },
                {
                    "id": "0110523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110523"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25566-1",
            "uniprot_ac": "P25566",
            "uniprot_id": "MXR2_YEAST",
            "refseq_ac": "NP_009897",
            "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": "Peptide methionine sulfoxide reductase 2",
                    "type": "recommended"
                },
                {
                    "name": "1.8.4.12",
                    "type": "synonym"
                },
                {
                    "name": "peptide-methionine (R)-S-oxide reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MXR2",
                    "type": "recommended"
                },
                {
                    "name": "MSRB",
                    "type": "synonym"
                },
                {
                    "name": "MXR2",
                    "type": "synonym"
                },
                {
                    "name": "YCL33C",
                    "type": "synonym"
                }
            ],
            "record_id": "P25566-1",
            "evidence": [
                {
                    "id": "0110523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110523"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LXA1-1",
            "uniprot_ac": "A0ABK0LXA1",
            "uniprot_id": "A0ABK0LXA1_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": "L-methionine (R)-S-oxide reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.8.4.14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msrb3",
                    "type": "recommended"
                },
                {
                    "name": "LOC680036",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LXA1-1",
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                {
                    "id": "0110523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110523"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INK9-1",
            "uniprot_ac": "Q8INK9",
            "uniprot_id": "MSRB_DROME",
            "refseq_ac": "NP_001138036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine-R-sulfoxide reductase B1",
                    "type": "recommended"
                },
                {
                    "name": "1.8.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CG6584-PG",
                    "type": "synonym"
                },
                {
                    "name": "EP3340",
                    "type": "synonym"
                },
                {
                    "name": "SelR-PG",
                    "type": "synonym"
                },
                {
                    "name": "Selenoprotein R",
                    "type": "synonym"
                },
                {
                    "name": "methionine-R-sulfoxide reductase",
                    "type": "synonym"
                },
                {
                    "name": "selenoprotein R, isoform G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SelR",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE36040",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH61230",
                    "type": "synonym"
                },
                {
                    "name": "CG6584",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6584",
                    "type": "synonym"
                },
                {
                    "name": "EP3340",
                    "type": "synonym"
                },
                {
                    "name": "MSRB",
                    "type": "synonym"
                },
                {
                    "name": "MsrB1",
                    "type": "synonym"
                },
                {
                    "name": "MsrB",
                    "type": "synonym"
                },
                {
                    "name": "SelR",
                    "type": "synonym"
                },
                {
                    "name": "dMsrB",
                    "type": "synonym"
                },
                {
                    "name": "selR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INK9-1",
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                {
                    "id": "0110523",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110523"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110523"
}