{
    "disease_id": "DOID:0070409",
    "recommended_name": {
        "id": "DOID:0070409",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070409",
        "name": "autosomal recessive spinocerebellar ataxia 28",
        "description": "An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33."
    },
    "synonyms": [
        {
            "id": "DOID:0070409",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070409",
            "name": "SCAR28",
            "description": ""
        },
        {
            "id": "MONDO:0032923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032923",
            "name": "spinocerebellar ataxia, autosomal recessive 28",
            "description": ""
        },
        {
            "id": "MONDO:0032923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032923",
            "name": "THG1L-related autosomal recessive congenital cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0032923",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032923",
            "name": "SCAR28",
            "description": ""
        },
        {
            "id": "MIM:618800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618800",
            "name": "Spinocerebellar ataxia, autosomal recessive, 28",
            "description": "Spinocerebellar ataxia, autosomal recessive, 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070409"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070409",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070409",
            "categories": []
        },
        {
            "id": "MONDO:0032923",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032923",
            "categories": []
        },
        {
            "id": "MIM:618800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N3E4-1",
            "uniprot_ac": "A0A8M1N3E4",
            "uniprot_id": "A0A8M1N3E4_DANRE",
            "refseq_ac": "NP_001007456",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA(His) guanylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.79",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA(His) guanylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-histidine guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "thg1l",
                    "type": "recommended"
                },
                {
                    "name": "thg1l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101609",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N3E4-1",
            "evidence": [
                {
                    "id": "0070409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CY52-1",
            "uniprot_ac": "Q9CY52",
            "uniprot_id": "THG1_MOUSE",
            "refseq_ac": "NP_001074438",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable tRNA(His) guanylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.79",
                    "type": "synonym"
                },
                {
                    "name": "interphase cyctoplasmic foci protein 45",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA(His) guanylyltransferase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA(His) guanylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-histidine guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thg1l",
                    "type": "recommended"
                },
                {
                    "name": "Thg1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CY52-1",
            "evidence": [
                {
                    "id": "0070409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NWX6-1",
            "uniprot_ac": "Q9NWX6",
            "uniprot_id": "THG1_HUMAN",
            "refseq_ac": "NP_001304753",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable tRNA(His) guanylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.79",
                    "type": "synonym"
                },
                {
                    "name": "IHG-1",
                    "type": "synonym"
                },
                {
                    "name": "Induced in high glucose-1",
                    "type": "synonym"
                },
                {
                    "name": "Interphase cytoplasmic foci protein 45",
                    "type": "synonym"
                },
                {
                    "name": "induced by high glucose-1",
                    "type": "synonym"
                },
                {
                    "name": "induced in high glucose-1",
                    "type": "synonym"
                },
                {
                    "name": "interphase cytoplasmic foci protein 45",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA(His) guanylyltransferase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA(His) guanylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-histidine guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THG1L",
                    "type": "recommended"
                },
                {
                    "name": "ICF45",
                    "type": "synonym"
                },
                {
                    "name": "IHG-1",
                    "type": "synonym"
                },
                {
                    "name": "IHG1",
                    "type": "synonym"
                },
                {
                    "name": "SCAR28",
                    "type": "synonym"
                },
                {
                    "name": "THG1L",
                    "type": "synonym"
                },
                {
                    "name": "THG1",
                    "type": "synonym"
                },
                {
                    "name": "hTHG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NWX6-1",
            "evidence": [
                {
                    "id": "618800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618800"
                },
                {
                    "id": "0070409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53215-1",
            "uniprot_ac": "P53215",
            "uniprot_id": "THG1_YEAST",
            "refseq_ac": "NP_011538",
            "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": "tRNA(His) guanylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.79",
                    "type": "synonym"
                },
                {
                    "name": "tRNA guanylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-histidine guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THG1",
                    "type": "recommended"
                },
                {
                    "name": "THG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53215-1",
            "evidence": [
                {
                    "id": "0070409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M965-1",
            "uniprot_ac": "Q5M965",
            "uniprot_id": "THG1_RAT",
            "refseq_ac": "NP_001013988",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable tRNA(His) guanylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.79",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA(His) guanylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-histidine guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thg1l",
                    "type": "recommended"
                },
                {
                    "name": "Thg1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M965-1",
            "evidence": [
                {
                    "id": "0070409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3N8-1",
            "uniprot_ac": "Q9V3N8",
            "uniprot_id": "THG1_DROME",
            "refseq_ac": "NP_001188815",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable tRNA(His) guanylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.79",
                    "type": "synonym"
                },
                {
                    "name": "CG4103-PB",
                    "type": "synonym"
                },
                {
                    "name": "THG-PB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 35Bc",
                    "type": "synonym"
                },
                {
                    "name": "lethal 11 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal 13 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal 4 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal group C1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA guanylyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-histidine guanylyltransferase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-histidine guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thg",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS00929.4",
                    "type": "synonym"
                },
                {
                    "name": "C1",
                    "type": "synonym"
                },
                {
                    "name": "CG4103",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4103",
                    "type": "synonym"
                },
                {
                    "name": "THG",
                    "type": "synonym"
                },
                {
                    "name": "br4",
                    "type": "synonym"
                },
                {
                    "name": "l(2)35Bc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br11",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br13",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br4",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k08808",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-guanylyltransferase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3N8-1",
            "evidence": [
                {
                    "id": "0070409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070409"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070409"
}