{
    "disease_id": "DOID:0110513",
    "recommended_name": {
        "id": "DOID:0110513",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110513",
        "name": "autosomal recessive nonsyndromic deafness 61",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by early childhood-onset moderate to severe sensorineural hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110513",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110513",
            "name": "DFNB61",
            "description": ""
        },
        {
            "id": "DOID:0110513",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110513",
            "name": "autosomal recessive deafness 61",
            "description": ""
        },
        {
            "id": "MONDO:0013471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013471",
            "name": "autosomal recessive nonsyndromic hearing loss 61",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene."
        },
        {
            "id": "MONDO:0013471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013471",
            "name": "DFNB61",
            "description": ""
        },
        {
            "id": "MONDO:0013471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013471",
            "name": "SLC26A5 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013471",
            "name": "autosomal recessive deafness 61",
            "description": ""
        },
        {
            "id": "MONDO:0013471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013471",
            "name": "autosomal recessive nonsyndromic deafness 61",
            "description": ""
        },
        {
            "id": "MONDO:0013471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013471",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5",
            "description": ""
        },
        {
            "id": "MONDO:0013471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013471",
            "name": "autosomal recessive nonsyndromic deafness type 61",
            "description": ""
        },
        {
            "id": "MONDO:0013471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013471",
            "name": "deafness, autosomal recessive 61",
            "description": ""
        },
        {
            "id": "MONDO:0013471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013471",
            "name": "deafness, autosomal recessive type 61",
            "description": ""
        },
        {
            "id": "MIM:613865",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613865",
            "name": "Deafness, autosomal recessive, 61",
            "description": "Deafness, autosomal recessive, 61"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110513"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110513",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110513",
            "categories": []
        },
        {
            "id": "MONDO:0013471",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013471",
            "categories": []
        },
        {
            "id": "MIM:613865",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613865",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7T2C4-1",
            "uniprot_ac": "Q7T2C4",
            "uniprot_id": "S26A5_DANRE",
            "refseq_ac": "NP_958881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prestin",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 26 member 5",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 5",
                    "type": "synonym"
                },
                {
                    "name": "zprestin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc26a5",
                    "type": "recommended"
                },
                {
                    "name": "fb73d12",
                    "type": "synonym"
                },
                {
                    "name": "fb74g12",
                    "type": "synonym"
                },
                {
                    "name": "pres",
                    "type": "synonym"
                },
                {
                    "name": "slc26a5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73d12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb74g12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T2C4-1",
            "evidence": [
                {
                    "id": "0110513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99NH7-1",
            "uniprot_ac": "Q99NH7",
            "uniprot_id": "S26A5_MOUSE",
            "refseq_ac": "NP_001276716",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prestin",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 26 member 5",
                    "type": "synonym"
                },
                {
                    "name": "outer hair cell motor protein",
                    "type": "synonym"
                },
                {
                    "name": "prestin (motor protein)",
                    "type": "synonym"
                },
                {
                    "name": "prestin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc26a5",
                    "type": "recommended"
                },
                {
                    "name": "Pres",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a5",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99NH7-1",
            "evidence": [
                {
                    "id": "0110513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58743-1",
            "uniprot_ac": "P58743",
            "uniprot_id": "S26A5_HUMAN",
            "refseq_ac": "NP_001161434",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prestin",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 26 member 5",
                    "type": "synonym"
                },
                {
                    "name": "prestin (motor protein)",
                    "type": "synonym"
                },
                {
                    "name": "prestin isoform e",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC26A5",
                    "type": "recommended"
                },
                {
                    "name": "DFNB61",
                    "type": "synonym"
                },
                {
                    "name": "PRES",
                    "type": "synonym"
                },
                {
                    "name": "SLC26A5",
                    "type": "synonym"
                }
            ],
            "record_id": "P58743-1",
            "evidence": [
                {
                    "id": "613865",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613865"
                },
                {
                    "id": "0110513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPH0-1",
            "uniprot_ac": "Q9EPH0",
            "uniprot_id": "S26A5_RAT",
            "refseq_ac": "NP_110467",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prestin",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 26 member 5",
                    "type": "synonym"
                },
                {
                    "name": "prestin (motor protein)",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 26 (anion exchanger), member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc26a5",
                    "type": "recommended"
                },
                {
                    "name": "Pres",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a5",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPH0-1",
            "evidence": [
                {
                    "id": "0110513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVM6-1",
            "uniprot_ac": "Q9VVM6",
            "uniprot_id": "Q9VVM6_DROME",
            "refseq_ac": "NP_649024",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5485-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prestin-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prestin",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prestin",
                    "type": "recommended"
                },
                {
                    "name": "CG5485",
                    "type": "synonym"
                },
                {
                    "name": "CG5845",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5485",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5485",
                    "type": "synonym"
                },
                {
                    "name": "Prestin",
                    "type": "synonym"
                },
                {
                    "name": "Slc26a5",
                    "type": "synonym"
                },
                {
                    "name": "dPrestin",
                    "type": "synonym"
                },
                {
                    "name": "dpres",
                    "type": "synonym"
                },
                {
                    "name": "prestin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVM6-1",
            "evidence": [
                {
                    "id": "0110513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110513"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110513"
}