{
    "disease_id": "DOID:0110493",
    "recommended_name": {
        "id": "DOID:0110493",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110493",
        "name": "autosomal recessive nonsyndromic deafness 35",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110493",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110493",
            "name": "DFNB35",
            "description": ""
        },
        {
            "id": "DOID:0110493",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110493",
            "name": "autosomal recessive deafness 35",
            "description": ""
        },
        {
            "id": "MONDO:0012060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "name": "autosomal recessive nonsyndromic hearing loss 35",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene."
        },
        {
            "id": "MONDO:0012060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "name": "autosomal recessive nonsyndromic hearing loss 35",
            "description": ""
        },
        {
            "id": "MONDO:0012060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "name": "DFNB35",
            "description": ""
        },
        {
            "id": "MONDO:0012060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "name": "ESRRB autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "name": "autosomal recessive deafness 35",
            "description": ""
        },
        {
            "id": "MONDO:0012060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "name": "autosomal recessive nonsyndromic deafness 35",
            "description": ""
        },
        {
            "id": "MONDO:0012060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in ESRRB",
            "description": ""
        },
        {
            "id": "MONDO:0012060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "name": "autosomal recessive nonsyndromic deafness type 35",
            "description": ""
        },
        {
            "id": "MONDO:0012060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "name": "deafness, autosomal recessive 35",
            "description": ""
        },
        {
            "id": "MONDO:0012060",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "name": "deafness, autosomal recessive type 35",
            "description": ""
        },
        {
            "id": "MIM:608565",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608565",
            "name": "Deafness, autosomal recessive, 35",
            "description": "Deafness, autosomal recessive, 35"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110493"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110493",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110493",
            "categories": []
        },
        {
            "id": "MONDO:0012060",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012060",
            "categories": []
        },
        {
            "id": "MIM:608565",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608565",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HMR2-1",
            "uniprot_ac": "A0AC58HMR2",
            "uniprot_id": "A0AC58HMR2_DANRE",
            "refseq_ac": "XP_073783268",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Steroid hormone receptor ERR2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "steroid hormone receptor ERR2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "esrrb",
                    "type": "recommended"
                },
                {
                    "name": "errbeta",
                    "type": "synonym"
                },
                {
                    "name": "errb",
                    "type": "synonym"
                },
                {
                    "name": "esrrb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HMR2-1",
            "evidence": [
                {
                    "id": "0110493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61539-1",
            "uniprot_ac": "Q61539",
            "uniprot_id": "ERR2_MOUSE",
            "refseq_ac": "NP_001152972",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Steroid hormone receptor ERR2",
                    "type": "recommended"
                },
                {
                    "name": "ERR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen receptor-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen-related receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor related 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor-like 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 3 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "steroid hormone receptor ERR2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "steroid hormone receptor ERR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Esrrb",
                    "type": "recommended"
                },
                {
                    "name": "Err-2",
                    "type": "synonym"
                },
                {
                    "name": "Err2",
                    "type": "synonym"
                },
                {
                    "name": "Errb",
                    "type": "synonym"
                },
                {
                    "name": "Esrrb",
                    "type": "synonym"
                },
                {
                    "name": "Estrrb",
                    "type": "synonym"
                },
                {
                    "name": "Nr3b2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61539-1",
            "evidence": [
                {
                    "id": "0110493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95718-3",
            "uniprot_ac": "O95718",
            "uniprot_id": "ERR2_HUMAN",
            "refseq_ac": "NP_004443",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Steroid hormone receptor ERR2",
                    "type": "recommended"
                },
                {
                    "name": "ERR beta-2",
                    "type": "synonym"
                },
                {
                    "name": "ERR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen receptor-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen-related receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor-like 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen-related nuclear receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor ERRB2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 3 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "orphan nuclear receptor",
                    "type": "synonym"
                },
                {
                    "name": "steroid hormone receptor ERR2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "steroid hormone receptor ERR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ESRRB",
                    "type": "recommended"
                },
                {
                    "name": "DFNB35",
                    "type": "synonym"
                },
                {
                    "name": "ERR beta-2",
                    "type": "synonym"
                },
                {
                    "name": "ERR2",
                    "type": "synonym"
                },
                {
                    "name": "ERRB2",
                    "type": "synonym"
                },
                {
                    "name": "ERRbeta2",
                    "type": "synonym"
                },
                {
                    "name": "ERRb",
                    "type": "synonym"
                },
                {
                    "name": "ESRL2",
                    "type": "synonym"
                },
                {
                    "name": "ESRRB",
                    "type": "synonym"
                },
                {
                    "name": "NR3B2",
                    "type": "synonym"
                }
            ],
            "record_id": "O95718-3",
            "evidence": [
                {
                    "id": "608565",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608565"
                },
                {
                    "id": "0110493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110493"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11475-1",
            "uniprot_ac": "P11475",
            "uniprot_id": "ERR2_RAT",
            "refseq_ac": "NP_001008516",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Steroid hormone receptor ERR2",
                    "type": "recommended"
                },
                {
                    "name": "ERR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen receptor-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Estrogen-related receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 3 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "estrogen receptor-like 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 3 group B member 2",
                    "type": "synonym"
                },
                {
                    "name": "steroid hormone receptor ERR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Esrrb",
                    "type": "recommended"
                },
                {
                    "name": "Err2",
                    "type": "synonym"
                },
                {
                    "name": "Errb",
                    "type": "synonym"
                },
                {
                    "name": "Esrl2",
                    "type": "synonym"
                },
                {
                    "name": "Esrrb",
                    "type": "synonym"
                },
                {
                    "name": "Nr3b2",
                    "type": "synonym"
                }
            ],
            "record_id": "P11475-1",
            "evidence": [
                {
                    "id": "0110493",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110493"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110493"
}