{
    "disease_id": "DOID:0080632",
    "recommended_name": {
        "id": "DOID:0080632",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080632",
        "name": "Fazio-Londe disease",
        "description": "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080632",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080632",
            "name": "riboflavin transporter deficiency neuronopathy",
            "description": ""
        },
        {
            "id": "MONDO:0100428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100428",
            "name": "progressive bulbar palsy of childhood",
            "description": "A progressive bulbar palsy of childhood that occurs during childhood."
        },
        {
            "id": "MONDO:0100428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100428",
            "name": "Fazio-Londe disease",
            "description": ""
        },
        {
            "id": "MIM:211500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211500",
            "name": "Fazio-Londe disease",
            "description": "Fazio-Londe disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080632"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080632",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080632",
            "categories": []
        },
        {
            "id": "MONDO:0100428",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100428",
            "categories": []
        },
        {
            "id": "MIM:211500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/211500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S5Y3-1",
            "uniprot_ac": "B0S5Y3",
            "uniprot_id": "S5A3A_DANRE",
            "refseq_ac": "NP_001035447",
            "glycoprotein": "yes",
            "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 3-A",
                    "type": "recommended"
                },
                {
                    "name": "RFT2-A",
                    "type": "synonym"
                },
                {
                    "name": "Riboflavin transporter 2-A",
                    "type": "synonym"
                },
                {
                    "name": "riboflavin transporter 2-A",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52 (riboflavin transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52 member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 3-A",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc52a3a",
                    "type": "recommended"
                },
                {
                    "name": "RFT2-A",
                    "type": "synonym"
                },
                {
                    "name": "rft2a",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-53e12.7",
                    "type": "synonym"
                },
                {
                    "name": "slc52a3-1",
                    "type": "synonym"
                },
                {
                    "name": "slc52a3a",
                    "type": "synonym"
                },
                {
                    "name": "slc52a3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136909",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S5Y3-1",
            "evidence": [
                {
                    "id": "0080632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D6X5-1",
            "uniprot_ac": "Q9D6X5",
            "uniprot_id": "S52A3_MOUSE",
            "refseq_ac": "NP_001158291",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "RFT2",
                    "type": "synonym"
                },
                {
                    "name": "Riboflavin transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "riboflavin transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc52a3",
                    "type": "recommended"
                },
                {
                    "name": "2310046K01Rik",
                    "type": "synonym"
                },
                {
                    "name": "RFT2",
                    "type": "synonym"
                },
                {
                    "name": "RFVT3",
                    "type": "synonym"
                },
                {
                    "name": "Rft2",
                    "type": "synonym"
                },
                {
                    "name": "Slc52a3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D6X5-1",
            "evidence": [
                {
                    "id": "0080632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQ40-1",
            "uniprot_ac": "Q9NQ40",
            "uniprot_id": "S52A3_HUMAN",
            "refseq_ac": "NP_212134",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "Riboflavin transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "SLC52A3a",
                    "type": "synonym"
                },
                {
                    "name": "SLC52A3b",
                    "type": "synonym"
                },
                {
                    "name": "hRFT2",
                    "type": "synonym"
                },
                {
                    "name": "riboflavin transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52 (riboflavin transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC52A3",
                    "type": "recommended"
                },
                {
                    "name": "BVVLS1",
                    "type": "synonym"
                },
                {
                    "name": "BVVLS",
                    "type": "synonym"
                },
                {
                    "name": "C20orf54",
                    "type": "synonym"
                },
                {
                    "name": "RFT2",
                    "type": "synonym"
                },
                {
                    "name": "RFVT3",
                    "type": "synonym"
                },
                {
                    "name": "SLC52A3",
                    "type": "synonym"
                },
                {
                    "name": "bA371L19.1",
                    "type": "synonym"
                },
                {
                    "name": "hRFT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQ40-1",
            "evidence": [
                {
                    "id": "211500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/211500"
                },
                {
                    "id": "0080632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080632"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4FZU9-1",
            "uniprot_ac": "Q4FZU9",
            "uniprot_id": "S52A3_RAT",
            "refseq_ac": "NP_001032275",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "Riboflavin transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "rRFT2",
                    "type": "synonym"
                },
                {
                    "name": "riboflavin transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc52a3",
                    "type": "recommended"
                },
                {
                    "name": "RGD1304644",
                    "type": "synonym"
                },
                {
                    "name": "Rft2",
                    "type": "synonym"
                },
                {
                    "name": "Slc52a3",
                    "type": "synonym"
                },
                {
                    "name": "rRFT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4FZU9-1",
            "evidence": [
                {
                    "id": "0080632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080632"
                }
            ]
        },
        {
            "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": "0080632",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080632"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080632"
}