{
    "disease_id": "DOID:0110555",
    "recommended_name": {
        "id": "DOID:0110555",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110555",
        "name": "autosomal dominant nonsyndromic deafness 25",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110555",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110555",
            "name": "DFNA25",
            "description": ""
        },
        {
            "id": "DOID:0110555",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110555",
            "name": "autosomal dominant deafness 25",
            "description": ""
        },
        {
            "id": "MONDO:0011568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011568",
            "name": "autosomal dominant nonsyndromic hearing loss 25",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene."
        },
        {
            "id": "MONDO:0011568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011568",
            "name": "DFNA25",
            "description": ""
        },
        {
            "id": "MONDO:0011568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011568",
            "name": "SLC17A8 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011568",
            "name": "autosomal dominant deafness 25",
            "description": ""
        },
        {
            "id": "MONDO:0011568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011568",
            "name": "autosomal dominant nonsyndromic deafness 25",
            "description": ""
        },
        {
            "id": "MONDO:0011568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011568",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8",
            "description": ""
        },
        {
            "id": "MONDO:0011568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011568",
            "name": "autosomal dominant nonsyndromic deafness type 25",
            "description": ""
        },
        {
            "id": "MONDO:0011568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011568",
            "name": "deafness, autosomal dominant 25",
            "description": ""
        },
        {
            "id": "MONDO:0011568",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011568",
            "name": "deafness, autosomal dominant type 25",
            "description": ""
        },
        {
            "id": "MIM:605583",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605583",
            "name": "Deafness, autosomal dominant, 25",
            "description": "Deafness, autosomal dominant, 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110555"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110555",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110555",
            "categories": []
        },
        {
            "id": "MONDO:0011568",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011568",
            "categories": []
        },
        {
            "id": "MIM:605583",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605583",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L8X9-1",
            "uniprot_ac": "Q1L8X9",
            "uniprot_id": "VGLU3_DANRE",
            "refseq_ac": "NP_001076304",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicular glutamate transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 17 member 8",
                    "type": "synonym"
                },
                {
                    "name": "VGluT3",
                    "type": "synonym"
                },
                {
                    "name": "asteroid",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 17 (vesicular glutamate transporter), member 8",
                    "type": "synonym"
                },
                {
                    "name": "vesicular glutamate transporter 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc17a8",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-264e16.4",
                    "type": "synonym"
                },
                {
                    "name": "slc17a8",
                    "type": "synonym"
                },
                {
                    "name": "vglut3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8X9-1",
            "evidence": [
                {
                    "id": "0110555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BCH8-1",
            "uniprot_ac": "A0A8M2BCH8",
            "uniprot_id": "A0A8M2BCH8_DANRE",
            "refseq_ac": "XP_005165208",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpv4",
                    "type": "recommended"
                },
                {
                    "name": "trpv4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fp52e02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BCH8-1",
            "evidence": [
                {
                    "id": "0110555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPK8-1",
            "uniprot_ac": "Q9EPK8",
            "uniprot_id": "TRPV4_MOUSE",
            "refseq_ac": "NP_071300",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4",
                    "type": "recommended"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "TRP12",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential protein 12",
                    "type": "synonym"
                },
                {
                    "name": "TrpV4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                },
                {
                    "name": "osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "osmosensitive transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential protein 12",
                    "type": "synonym"
                },
                {
                    "name": "trpv4 channel",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-like channel 2",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpv4",
                    "type": "recommended"
                },
                {
                    "name": "0610033B08Rik",
                    "type": "synonym"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Trp12",
                    "type": "synonym"
                },
                {
                    "name": "Trpv4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "VRL-2",
                    "type": "synonym"
                },
                {
                    "name": "VROAC",
                    "type": "synonym"
                },
                {
                    "name": "Vrl2",
                    "type": "synonym"
                },
                {
                    "name": "Vroac",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPK8-1",
            "evidence": [
                {
                    "id": "0110555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BFU8-1",
            "uniprot_ac": "Q8BFU8",
            "uniprot_id": "VGLU3_MOUSE",
            "refseq_ac": "NP_892004",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicular glutamate transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 17 member 8",
                    "type": "synonym"
                },
                {
                    "name": "VGluT3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 17 member 8",
                    "type": "synonym"
                },
                {
                    "name": "vesicular glutamate transporter 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vesicular glutamate transporter 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc17a8",
                    "type": "recommended"
                },
                {
                    "name": "Slc17a8",
                    "type": "synonym"
                },
                {
                    "name": "Vglut3",
                    "type": "synonym"
                },
                {
                    "name": "Vgt3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BFU8-1",
            "evidence": [
                {
                    "id": "0110555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NDX2-1",
            "uniprot_ac": "Q8NDX2",
            "uniprot_id": "VGLU3_HUMAN",
            "refseq_ac": "NP_001138760",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicular glutamate transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 17 member 8",
                    "type": "synonym"
                },
                {
                    "name": "VGluT3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 17 (vesicular glutamate transporter), member 8",
                    "type": "synonym"
                },
                {
                    "name": "vesicular glutamate transporter 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vesicular glutamate transporter 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC17A8",
                    "type": "recommended"
                },
                {
                    "name": "DFNA25",
                    "type": "synonym"
                },
                {
                    "name": "SLC17A8",
                    "type": "synonym"
                },
                {
                    "name": "VGLUT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NDX2-1",
            "evidence": [
                {
                    "id": "605583",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605583"
                },
                {
                    "id": "0110555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53241-1",
            "uniprot_ac": "P53241",
            "uniprot_id": "VHT1_YEAST",
            "refseq_ac": "NP_011579",
            "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": "Vitamin H transporter",
                    "type": "recommended"
                },
                {
                    "name": "H(+)/biotin symporter",
                    "type": "synonym"
                },
                {
                    "name": "Vht1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VHT1",
                    "type": "recommended"
                },
                {
                    "name": "VHT1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53241-1",
            "evidence": [
                {
                    "id": "0110555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39709-1",
            "uniprot_ac": "P39709",
            "uniprot_id": "SEO1_YEAST",
            "refseq_ac": "NP_009333",
            "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": "Probable transporter SEO1",
                    "type": "recommended"
                },
                {
                    "name": "putative permease SEO1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEO1",
                    "type": "recommended"
                },
                {
                    "name": "SEO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P39709-1",
            "evidence": [
                {
                    "id": "0110555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25621-1",
            "uniprot_ac": "P25621",
            "uniprot_id": "FEN2_YEAST",
            "refseq_ac": "NP_009957",
            "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": "Pantothenate transporter FEN2",
                    "type": "recommended"
                },
                {
                    "name": "Fen2p",
                    "type": "synonym"
                },
                {
                    "name": "Fenpropimorph resistance protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FEN2",
                    "type": "recommended"
                },
                {
                    "name": "FEN2",
                    "type": "synonym"
                },
                {
                    "name": "YCR28C",
                    "type": "synonym"
                }
            ],
            "record_id": "P25621-1",
            "evidence": [
                {
                    "id": "0110555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12324-1",
            "uniprot_ac": "Q12324",
            "uniprot_id": "YVC1_YEAST",
            "refseq_ac": "NP_014730",
            "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": "Calcium channel YVC1",
                    "type": "recommended"
                },
                {
                    "name": "TRP homolog",
                    "type": "synonym"
                },
                {
                    "name": "Yeast vacuolar conductance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Yvc1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YVC1",
                    "type": "recommended"
                },
                {
                    "name": "YOR088W",
                    "type": "synonym"
                },
                {
                    "name": "YOR3151W",
                    "type": "synonym"
                },
                {
                    "name": "YVC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12324-1",
            "evidence": [
                {
                    "id": "0110555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TSF2-1",
            "uniprot_ac": "Q7TSF2",
            "uniprot_id": "VGLU3_RAT",
            "refseq_ac": "NP_714947",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicular glutamate transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 17 member 8",
                    "type": "synonym"
                },
                {
                    "name": "VGluT3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 17 (vesicular glutamate transporter), member 8",
                    "type": "synonym"
                },
                {
                    "name": "vesicular glutamate transporter 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc17a8",
                    "type": "recommended"
                },
                {
                    "name": "Slc17a8",
                    "type": "synonym"
                },
                {
                    "name": "Vglut3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSF2-1",
            "evidence": [
                {
                    "id": "0110555",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110555"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERZ8-1",
            "uniprot_ac": "Q9ERZ8",
            "uniprot_id": "TRPV4_RAT",
            "refseq_ac": "NP_076460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily V member 4",
                    "type": "recommended"
                },
                {
                    "name": "OTRPC4",
                    "type": "synonym"
                },
                {
                    "name": "Osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "TrpV4",
                    "type": "synonym"
                },
                {
                    "name": "VR-OAC",
                    "type": "synonym"
                },
                {
                    "name": "Vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                },
                {
                    "name": "osm-9-like TRP channel 4",
                    "type": "synonym"
                },
                {
                    "name": "osmosensitive transient receptor potential channel 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subf V memb 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily V member 4",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily 5, member 4",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically activated channel (Vroac)",
                    "type": "synonym"
                },
                {
                    "name": "vanilloid receptor-related osmotically-activated channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpv4",
                    "type": "recommended"
                },
                {
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}