{
    "disease_id": "DOID:0111613",
    "recommended_name": {
        "id": "DOID:0111613",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111613",
        "name": "autosomal recessive spinocerebellar ataxia 23",
        "description": "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111613",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111613",
            "name": "SCAR23",
            "description": ""
        },
        {
            "id": "DOID:0111613",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111613",
            "name": "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014846",
            "name": "spinocerebellar ataxia, autosomal recessive 23",
            "description": ""
        },
        {
            "id": "MONDO:0014846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014846",
            "name": "SCAR23",
            "description": ""
        },
        {
            "id": "MONDO:0014846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014846",
            "name": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014846",
            "name": "spinocerebellar ataxia autosomal recessive type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014846",
            "name": "spinocerebellar ataxia, autosomal recessive 23",
            "description": ""
        },
        {
            "id": "MONDO:0014846",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014846",
            "name": "spinocerebellar ataxia, autosomal recessive type 23",
            "description": ""
        },
        {
            "id": "MIM:616949",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616949",
            "name": "Spinocerebellar ataxia, autosomal recessive, 23",
            "description": "Spinocerebellar ataxia, autosomal recessive, 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111613"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111613",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111613",
            "categories": []
        },
        {
            "id": "MONDO:0014846",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014846",
            "categories": []
        },
        {
            "id": "MIM:616949",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616949",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5XJA0-1",
            "uniprot_ac": "Q5XJA0",
            "uniprot_id": "TYDP2_DANRE",
            "refseq_ac": "NP_001073171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosyl-DNA phosphodiesterase 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "5'-Tyr-DNA phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "5'-tyrosyl-DNA phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "TRAF and TNF receptor-associated protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Tyr-DNA phosphodiesterase 2",
                    "type": "synonym"
                },
                {
                    "name": "immune transcriptional repressor",
                    "type": "synonym"
                },
                {
                    "name": "traf and tnf receptor associated protein, like",
                    "type": "synonym"
                },
                {
                    "name": "tyr-DNA phosphodiesterase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-DNA phosphodiesterase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tdp2",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-81e5.5",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-218n20.5",
                    "type": "synonym"
                },
                {
                    "name": "tdp2b",
                    "type": "synonym"
                },
                {
                    "name": "tdp2",
                    "type": "synonym"
                },
                {
                    "name": "ttrapl",
                    "type": "synonym"
                },
                {
                    "name": "ttrap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XJA0-1",
            "evidence": [
                {
                    "id": "0111613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJX7-1",
            "uniprot_ac": "Q9JJX7",
            "uniprot_id": "TYDP2_MOUSE",
            "refseq_ac": "NP_062424",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosyl-DNA phosphodiesterase 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "5'-Tyr-DNA phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "5'-tyrosyl-DNA phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "TRAF and TNF receptor-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Tyr-DNA phosphodiesterase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyr-DNA phosphodiesterase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-DNA phosphodiesterase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdp2",
                    "type": "recommended"
                },
                {
                    "name": "D13Ertd656e",
                    "type": "synonym"
                },
                {
                    "name": "Tdp2",
                    "type": "synonym"
                },
                {
                    "name": "Ttrap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJX7-1",
            "evidence": [
                {
                    "id": "0111613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95551-1",
            "uniprot_ac": "O95551",
            "uniprot_id": "TYDP2_HUMAN",
            "refseq_ac": "NP_057698",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosyl-DNA phosphodiesterase 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "5'-Tyr-DNA phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "5'-tyrosyl-DNA phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "EAPII",
                    "type": "synonym"
                },
                {
                    "name": "ETS1-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ETS1-associated protein II",
                    "type": "synonym"
                },
                {
                    "name": "TRAF and TNF receptor-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Tyr-DNA phosphodiesterase 2",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-RNA phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "VPg unlinkase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "hTDP2",
                    "type": "synonym"
                },
                {
                    "name": "tyr-DNA phosphodiesterase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-DNA phosphodiesterase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-RNA phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TDP2",
                    "type": "recommended"
                },
                {
                    "name": "AD-022",
                    "type": "synonym"
                },
                {
                    "name": "AD022",
                    "type": "synonym"
                },
                {
                    "name": "EAP2",
                    "type": "synonym"
                },
                {
                    "name": "EAPII",
                    "type": "synonym"
                },
                {
                    "name": "TDP2",
                    "type": "synonym"
                },
                {
                    "name": "TTRAP",
                    "type": "synonym"
                },
                {
                    "name": "dJ30M3.3",
                    "type": "synonym"
                },
                {
                    "name": "hTDP2",
                    "type": "synonym"
                }
            ],
            "record_id": "O95551-1",
            "evidence": [
                {
                    "id": "616949",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616949"
                },
                {
                    "id": "0111613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3T1H5-1",
            "uniprot_ac": "Q3T1H5",
            "uniprot_id": "TYDP2_RAT",
            "refseq_ac": "NP_001030119",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosyl-DNA phosphodiesterase 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "5'-Tyr-DNA phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "5'-tyrosyl-DNA phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "TRAF and TNF receptor-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Traf and Tnf receptor associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Tyr-DNA phosphodiesterase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyr-DNA phosphodiesterase 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-DNA phosphodiesterase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdp2",
                    "type": "recommended"
                },
                {
                    "name": "Tdp2",
                    "type": "synonym"
                },
                {
                    "name": "Ttrap",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3T1H5-1",
            "evidence": [
                {
                    "id": "0111613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111613"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111613"
}