{
    "disease_id": "DOID:0110483",
    "recommended_name": {
        "id": "DOID:0110483",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110483",
        "name": "autosomal recessive nonsyndromic deafness 25",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110483",
            "name": "DFNB25",
            "description": ""
        },
        {
            "id": "DOID:0110483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110483",
            "name": "autosomal recessive deafness 25",
            "description": ""
        },
        {
            "id": "MONDO:0013210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "name": "autosomal recessive nonsyndromic hearing loss 25",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene."
        },
        {
            "id": "MONDO:0013210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "name": "autosomal recessive nonsyndromic hearing loss 25",
            "description": ""
        },
        {
            "id": "MONDO:0013210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "name": "DFNB25",
            "description": ""
        },
        {
            "id": "MONDO:0013210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "name": "GRXCR1 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "name": "autosomal recessive deafness 25",
            "description": ""
        },
        {
            "id": "MONDO:0013210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "name": "autosomal recessive nonsyndromic deafness 25",
            "description": ""
        },
        {
            "id": "MONDO:0013210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1",
            "description": ""
        },
        {
            "id": "MONDO:0013210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "name": "autosomal recessive nonsyndromic deafness type 25",
            "description": ""
        },
        {
            "id": "MONDO:0013210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "name": "deafness, autosomal recessive 25",
            "description": ""
        },
        {
            "id": "MONDO:0013210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "name": "deafness, autosomal recessive type 25",
            "description": ""
        },
        {
            "id": "MIM:613285",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613285",
            "name": "Deafness, autosomal recessive, 25",
            "description": "Deafness, autosomal recessive, 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110483"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110483",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110483",
            "categories": []
        },
        {
            "id": "MONDO:0013210",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013210",
            "categories": []
        },
        {
            "id": "MIM:613285",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613285",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PYD8-1",
            "uniprot_ac": "A0A8M9PYD8",
            "uniprot_id": "A0A8M9PYD8_DANRE",
            "refseq_ac": "XP_021336417",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaredoxin domain-containing cysteine-rich protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin domain-containing cysteine-rich protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grxcr1b",
                    "type": "recommended"
                },
                {
                    "name": "grxcr1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PYD8-1",
            "evidence": [
                {
                    "id": "0110483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q50H32-1",
            "uniprot_ac": "Q50H32",
            "uniprot_id": "GRCR1_MOUSE",
            "refseq_ac": "NP_001018019",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaredoxin domain-containing cysteine-rich protein 1",
                    "type": "recommended"
                },
                {
                    "name": "glutaredoxin cysteine-rich 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin domain-containing cysteine-rich protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grxcr1",
                    "type": "recommended"
                },
                {
                    "name": "Grxcr1",
                    "type": "synonym"
                },
                {
                    "name": "Tg(Eno2-Gabrb3)0370Brll",
                    "type": "synonym"
                },
                {
                    "name": "pi",
                    "type": "synonym"
                },
                {
                    "name": "tde",
                    "type": "synonym"
                }
            ],
            "record_id": "Q50H32-1",
            "evidence": [
                {
                    "id": "0110483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8MXD5-1",
            "uniprot_ac": "A8MXD5",
            "uniprot_id": "GRCR1_HUMAN",
            "refseq_ac": "NP_001073945",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaredoxin domain-containing cysteine-rich protein 1",
                    "type": "recommended"
                },
                {
                    "name": "glutaredoxin domain-containing cysteine-rich protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin, cysteine rich 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 88",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRXCR1",
                    "type": "recommended"
                },
                {
                    "name": "DFNB25",
                    "type": "synonym"
                },
                {
                    "name": "GRXCR1",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R88",
                    "type": "synonym"
                }
            ],
            "record_id": "A8MXD5-1",
            "evidence": [
                {
                    "id": "613285",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613285"
                },
                {
                    "id": "0110483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A048-1",
            "uniprot_ac": "D4A048",
            "uniprot_id": "D4A048_RAT",
            "refseq_ac": "NP_001178864",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaredoxin domain-containing cysteine-rich protein 1",
                    "type": "recommended"
                },
                {
                    "name": "glutaredoxin domain-containing cysteine-rich protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin domain-containing cysteine-rich protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin, cysteine rich 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grxcr1",
                    "type": "recommended"
                },
                {
                    "name": "Grxcr1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564635",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A048-1",
            "evidence": [
                {
                    "id": "0110483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNL4-1",
            "uniprot_ac": "Q9VNL4",
            "uniprot_id": "GRCR1_DROME",
            "refseq_ac": "NP_731045",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaredoxin domain-containing cysteine-rich protein CG31559",
                    "type": "recommended"
                },
                {
                    "name": "CG31559-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "31559",
                    "type": "synonym"
                },
                {
                    "name": "CG11461",
                    "type": "synonym"
                },
                {
                    "name": "CG15584",
                    "type": "synonym"
                },
                {
                    "name": "CG31559",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31559",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNL4-1",
            "evidence": [
                {
                    "id": "0110483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4S1-1",
            "uniprot_ac": "Q9W4S1",
            "uniprot_id": "GRCR2_DROME",
            "refseq_ac": "NP_570060",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaredoxin domain-containing cysteine-rich protein CG12206",
                    "type": "recommended"
                },
                {
                    "name": "CG12206-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG12206",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12206",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4S1-1",
            "evidence": [
                {
                    "id": "0110483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110483"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110483"
}