{
    "disease_id": "DOID:0050982",
    "recommended_name": {
        "id": "DOID:0050982",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050982",
        "name": "spinocerebellar ataxia 35",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013485",
            "name": "spinocerebellar ataxia type 35",
            "description": "Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis."
        },
        {
            "id": "MONDO:0013485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013485",
            "name": "SCA35",
            "description": ""
        },
        {
            "id": "MONDO:0013485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013485",
            "name": "spinocerebellar ataxia type 35",
            "description": ""
        },
        {
            "id": "MONDO:0013485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013485",
            "name": "spinocerebellar ataxia 35",
            "description": ""
        },
        {
            "id": "MIM:613908",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613908",
            "name": "Spinocerebellar ataxia 35",
            "description": "Spinocerebellar ataxia 35"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050982"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050982",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050982",
            "categories": []
        },
        {
            "id": "MONDO:0013485",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013485",
            "categories": []
        },
        {
            "id": "MIM:613908",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613908",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3BAQ1-1",
            "uniprot_ac": "A0A8M3BAQ1",
            "uniprot_id": "A0A8M3BAQ1_DANRE",
            "refseq_ac": "XP_009301053",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.44",
                    "type": "synonym"
                },
                {
                    "name": "Isopeptidase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine deamidase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine dopaminyltransferase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine histaminyltransferase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine noradrenalinyltransferase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine serotonyltransferase TGM2",
                    "type": "synonym"
                },
                {
                    "name": "Tissue transglutaminase",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-2",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tgm8",
                    "type": "recommended"
                },
                {
                    "name": "tgm8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3BAQ1-1",
            "evidence": [
                {
                    "id": "0050982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95932-1",
            "uniprot_ac": "O95932",
            "uniprot_id": "TGM3L_HUMAN",
            "refseq_ac": "NP_001241663",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase 6",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "TG6",
                    "type": "synonym"
                },
                {
                    "name": "TGY",
                    "type": "synonym"
                },
                {
                    "name": "TGase Y",
                    "type": "synonym"
                },
                {
                    "name": "TGase-3-like",
                    "type": "synonym"
                },
                {
                    "name": "TGase-6",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase Y",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-3-like",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-6",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase 6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase 6",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase y",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGM6",
                    "type": "recommended"
                },
                {
                    "name": "SCA35",
                    "type": "synonym"
                },
                {
                    "name": "TG6",
                    "type": "synonym"
                },
                {
                    "name": "TGM3L",
                    "type": "synonym"
                },
                {
                    "name": "TGM6",
                    "type": "synonym"
                },
                {
                    "name": "TGY",
                    "type": "synonym"
                },
                {
                    "name": "dJ734P14.3",
                    "type": "synonym"
                }
            ],
            "record_id": "O95932-1",
            "evidence": [
                {
                    "id": "613908",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613908"
                },
                {
                    "id": "0050982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M4T7-1",
            "uniprot_ac": "F1M4T7",
            "uniprot_id": "F1M4T7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase E",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase E",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgm6",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M4T7-1",
            "evidence": [
                {
                    "id": "0050982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050982"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLU2-1",
            "uniprot_ac": "Q9VLU2",
            "uniprot_id": "Q9VLU2_DROME",
            "refseq_ac": "NP_609174",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "protein-glutamine gamma-glutamyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "CG7356-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tg-PA",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase-A",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tg",
                    "type": "recommended"
                },
                {
                    "name": "CG7356",
                    "type": "synonym"
                },
                {
                    "name": "DmTG",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7356",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7356",
                    "type": "synonym"
                },
                {
                    "name": "TG",
                    "type": "synonym"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                },
                {
                    "name": "dTG-alpha",
                    "type": "synonym"
                },
                {
                    "name": "dTG",
                    "type": "synonym"
                },
                {
                    "name": "tg",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLU2-1",
            "evidence": [
                {
                    "id": "0050982",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050982"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050982"
}