{
    "disease_id": "DOID:0090115",
    "recommended_name": {
        "id": "DOID:0090115",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090115",
        "name": "spinocerebellar ataxia with axonal neuropathy 1",
        "description": "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11."
    },
    "synonyms": [
        {
            "id": "DOID:0090115",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090115",
            "name": "SCAN1",
            "description": ""
        },
        {
            "id": "DOID:0090115",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090115",
            "name": "autosomal recessive spinocerebellar ataxia with axonal neuropathy 1",
            "description": ""
        },
        {
            "id": "DOID:0090115",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090115",
            "name": "spinocerebellar ataxia with axonal neuropathy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011801",
            "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1",
            "description": "Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia."
        },
        {
            "id": "MONDO:0011801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011801",
            "name": "autosomal recessive spinocerebellar ataxia with axonal neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011801",
            "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011801",
            "name": "SCAN1",
            "description": ""
        },
        {
            "id": "MONDO:0011801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011801",
            "name": "Spinocerebellar Ataxia with Axonal Neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011801",
            "name": "spinocerebellar ataxia type 1 with axonal neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011801",
            "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0011801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011801",
            "name": "spinocerebellar ataxia autosomal recessive with axonal neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011801",
            "name": "spinocerebellar ataxia with axonal neuropathy",
            "description": ""
        },
        {
            "id": "MIM:607250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607250",
            "name": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1",
            "description": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090115"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090115",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090115",
            "categories": []
        },
        {
            "id": "MONDO:0011801",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011801",
            "categories": []
        },
        {
            "id": "MIM:607250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W5U2-1",
            "uniprot_ac": "F8W5U2",
            "uniprot_id": "F8W5U2_DANRE",
            "refseq_ac": "XP_700174",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "tyrosyl-DNA phosphodiesterase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tdp1",
                    "type": "recommended"
                },
                {
                    "name": "tdp1",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W5U2-1",
            "evidence": [
                {
                    "id": "0090115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BJ37-1",
            "uniprot_ac": "Q8BJ37",
            "uniprot_id": "TYDP1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosyl-DNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "MLZ-501",
                    "type": "synonym"
                },
                {
                    "name": "Protein expressed in male leptotene and zygotene spermatocytes 501",
                    "type": "synonym"
                },
                {
                    "name": "Tyr-DNA phosphodiesterase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdp1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8BJ37-1",
            "evidence": [
                {
                    "id": "0090115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NUW8-1",
            "uniprot_ac": "Q9NUW8",
            "uniprot_id": "TYDP1_HUMAN",
            "refseq_ac": "NP_001008744",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Tyr-DNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "tyr-DNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-DNA phosphodiesterase 1 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TDP1",
                    "type": "recommended"
                },
                {
                    "name": "TDP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NUW8-1",
            "evidence": [
                {
                    "id": "607250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607250"
                },
                {
                    "id": "0090115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38319-1",
            "uniprot_ac": "P38319",
            "uniprot_id": "TYDP1_YEAST",
            "refseq_ac": "NP_009782",
            "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": "Tyrosyl-DNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Tyr-DNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-DNA phosphodiesterase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TDP1",
                    "type": "recommended"
                },
                {
                    "name": "TDP1",
                    "type": "synonym"
                },
                {
                    "name": "YBR1520",
                    "type": "synonym"
                }
            ],
            "record_id": "P38319-1",
            "evidence": [
                {
                    "id": "0090115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G056-1",
            "uniprot_ac": "Q4G056",
            "uniprot_id": "TYDP1_RAT",
            "refseq_ac": "NP_001026827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosyl-DNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Tyr-DNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "tyr-DNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosyl-DNA phosphodiesterase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdp1",
                    "type": "recommended"
                },
                {
                    "name": "Tdp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4G056-1",
            "evidence": [
                {
                    "id": "0090115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQM4-1",
            "uniprot_ac": "Q9VQM4",
            "uniprot_id": "TYDP1_DROME",
            "refseq_ac": "NP_523465",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosyl-DNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG8825-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein glaikit",
                    "type": "synonym"
                },
                {
                    "name": "Tyr-DNA phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-DNA phosophodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosyl-DNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "anon-23Db",
                    "type": "synonym"
                },
                {
                    "name": "gkt-PA",
                    "type": "synonym"
                },
                {
                    "name": "glaikit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tdp1",
                    "type": "recommended"
                },
                {
                    "name": "CG8825",
                    "type": "synonym"
                },
                {
                    "name": "CG8826",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8825",
                    "type": "synonym"
                },
                {
                    "name": "Gkt",
                    "type": "synonym"
                },
                {
                    "name": "Glaikit",
                    "type": "synonym"
                },
                {
                    "name": "TDP1",
                    "type": "synonym"
                },
                {
                    "name": "Tdp1",
                    "type": "synonym"
                },
                {
                    "name": "anon-23Db",
                    "type": "synonym"
                },
                {
                    "name": "c22",
                    "type": "synonym"
                },
                {
                    "name": "gkt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQM4-1",
            "evidence": [
                {
                    "id": "0090115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090115"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090115"
}