{
    "disease_id": "DOID:0080786",
    "recommended_name": {
        "id": "DOID:0080786",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080786",
        "name": "Brown-Vialetto-Van Laere syndrome 2",
        "description": "A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "DOID:0080786",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080786",
            "name": "spinocerebellar ataxia with blindness and deafness 2",
            "description": ""
        },
        {
            "id": "DOID:0080786",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080786",
            "name": "SCABD2",
            "description": ""
        },
        {
            "id": "MONDO:0013867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013867",
            "name": "Brown-Vialetto-van Laere syndrome 2",
            "description": "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene."
        },
        {
            "id": "MONDO:0013867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013867",
            "name": "BVVLS2",
            "description": ""
        },
        {
            "id": "MONDO:0013867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013867",
            "name": "Brown-Vialetto-Van Laere syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013867",
            "name": "Brown-Vialetto-van Laere syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013867",
            "name": "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2",
            "description": ""
        },
        {
            "id": "MONDO:0013867",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013867",
            "name": "SLC52A2 Brown-Vialetto-van Laere syndrome",
            "description": ""
        },
        {
            "id": "MIM:614707",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614707",
            "name": "Brown-Vialetto-Van Laere syndrome 2",
            "description": "Brown-Vialetto-Van Laere syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080786"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080786",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080786",
            "categories": []
        },
        {
            "id": "MONDO:0013867",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013867",
            "categories": []
        },
        {
            "id": "MIM:614707",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614707",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HXG3-1",
            "uniprot_ac": "A0AC58HXG3",
            "uniprot_id": "A0AC58HXG3_DANRE",
            "refseq_ac": "XP_073786673",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 52, riboflavin transporter, member 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc52a2",
                    "type": "recommended"
                },
                {
                    "name": "fc11c06",
                    "type": "synonym"
                },
                {
                    "name": "slc52a2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc11c06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63774",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HXG3-1",
            "evidence": [
                {
                    "id": "0080786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D8F3-1",
            "uniprot_ac": "Q9D8F3",
            "uniprot_id": "S52A2_MOUSE",
            "refseq_ac": "NP_083919",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 52, riboflavin transporter, member 2",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 172B",
                    "type": "synonym"
                },
                {
                    "name": "PERV-A receptor 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Porcine endogenous retrovirus A receptor 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein GPR172B",
                    "type": "synonym"
                },
                {
                    "name": "Riboflavin transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "mRFT1",
                    "type": "synonym"
                },
                {
                    "name": "porcine endogenous retrovirus A receptor 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "riboflavin transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc52a2",
                    "type": "recommended"
                },
                {
                    "name": "2010003P03Rik",
                    "type": "synonym"
                },
                {
                    "name": "D15Ertd747e",
                    "type": "synonym"
                },
                {
                    "name": "GPCR42",
                    "type": "synonym"
                },
                {
                    "name": "Gpr172b",
                    "type": "synonym"
                },
                {
                    "name": "PAR2",
                    "type": "synonym"
                },
                {
                    "name": "RFT1",
                    "type": "synonym"
                },
                {
                    "name": "Rft1",
                    "type": "synonym"
                },
                {
                    "name": "Rfvt2",
                    "type": "synonym"
                },
                {
                    "name": "Slc52a2",
                    "type": "synonym"
                },
                {
                    "name": "mRFT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D8F3-1",
            "evidence": [
                {
                    "id": "0080786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HAB3-1",
            "uniprot_ac": "Q9HAB3",
            "uniprot_id": "S52A2_HUMAN",
            "refseq_ac": "NP_001240744",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 52, riboflavin transporter, member 2",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 172A",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 41",
                    "type": "synonym"
                },
                {
                    "name": "PERV-A receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Porcine endogenous retrovirus A receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein GPR172A",
                    "type": "synonym"
                },
                {
                    "name": "Riboflavin transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "hRFT3",
                    "type": "synonym"
                },
                {
                    "name": "human porcine endogenous retrovirus subgroup A receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "porcine endogenous retrovirus A receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "putative G-protein coupled receptor GPCR41",
                    "type": "synonym"
                },
                {
                    "name": "riboflavin transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52 (riboflavin transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC52A2",
                    "type": "recommended"
                },
                {
                    "name": "BVVLS2",
                    "type": "synonym"
                },
                {
                    "name": "D15Ertd747e",
                    "type": "synonym"
                },
                {
                    "name": "GPCR41",
                    "type": "synonym"
                },
                {
                    "name": "GPR172A",
                    "type": "synonym"
                },
                {
                    "name": "HuPAR-1",
                    "type": "synonym"
                },
                {
                    "name": "PAR1",
                    "type": "synonym"
                },
                {
                    "name": "RFT3",
                    "type": "synonym"
                },
                {
                    "name": "RFVT2",
                    "type": "synonym"
                },
                {
                    "name": "SLC52A2",
                    "type": "synonym"
                },
                {
                    "name": "hRFT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HAB3-1",
            "evidence": [
                {
                    "id": "614707",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614707"
                },
                {
                    "id": "0080786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B5MEV3-1",
            "uniprot_ac": "B5MEV3",
            "uniprot_id": "S52A2_RAT",
            "refseq_ac": "NP_001103140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 52, riboflavin transporter, member 2",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 172A",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor 172B",
                    "type": "synonym"
                },
                {
                    "name": "Porcine endogenous retrovirus A receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein GPR172B",
                    "type": "synonym"
                },
                {
                    "name": "Riboflavin transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "porcine endogenous retrovirus A receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "rRFT1",
                    "type": "synonym"
                },
                {
                    "name": "riboflavin transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc52a2",
                    "type": "recommended"
                },
                {
                    "name": "Gpr172a",
                    "type": "synonym"
                },
                {
                    "name": "Gpr172b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560410",
                    "type": "synonym"
                },
                {
                    "name": "Rft1",
                    "type": "synonym"
                },
                {
                    "name": "Slc52a2",
                    "type": "synonym"
                },
                {
                    "name": "rRFT1",
                    "type": "synonym"
                }
            ],
            "record_id": "B5MEV3-1",
            "evidence": [
                {
                    "id": "0080786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080786"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9S9-1",
            "uniprot_ac": "Q9V9S9",
            "uniprot_id": "Q9V9S9_DROME",
            "refseq_ac": "NP_651901",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Riboflavin transporter",
                    "type": "recommended"
                },
                {
                    "name": "CG11576-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rift-PA",
                    "type": "synonym"
                },
                {
                    "name": "drosophila riboflavin transporter",
                    "type": "synonym"
                },
                {
                    "name": "riboflavin transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rift",
                    "type": "recommended"
                },
                {
                    "name": "CG11576",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11576",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11576",
                    "type": "synonym"
                },
                {
                    "name": "Rift",
                    "type": "synonym"
                },
                {
                    "name": "cg11576",
                    "type": "synonym"
                },
                {
                    "name": "drift",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9S9-1",
            "evidence": [
                {
                    "id": "0080786",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080786"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080786"
}