{
    "disease_id": "DOID:0080059",
    "recommended_name": {
        "id": "DOID:0080059",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080059",
        "name": "autosomal recessive spinocerebellar ataxia 7",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0080059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080059",
            "name": "SCAR7",
            "description": ""
        },
        {
            "id": "MONDO:0012235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012235",
            "name": "autosomal recessive spinocerebellar ataxia 7",
            "description": "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0012235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012235",
            "name": "SCAR7",
            "description": ""
        },
        {
            "id": "MONDO:0012235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012235",
            "name": "autosomal recessive spinocerebellar ataxia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012235",
            "name": "spinocerebellar ataxia, autosomal recessive type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012235",
            "name": "childhood onset autosomal recessive slowly progressive spinocerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012235",
            "name": "spinocerebellar ataxia autosomal recessive 7",
            "description": ""
        },
        {
            "id": "MONDO:0012235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012235",
            "name": "spinocerebellar ataxia, autosomal recessive 7",
            "description": ""
        },
        {
            "id": "MIM:609270",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609270",
            "name": "Spinocerebellar ataxia, autosomal recessive, 7",
            "description": "Spinocerebellar ataxia, autosomal recessive, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080059"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080059",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080059",
            "categories": []
        },
        {
            "id": "MONDO:0012235",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012235",
            "categories": []
        },
        {
            "id": "MIM:609270",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609270",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W2M8-1",
            "uniprot_ac": "F8W2M8",
            "uniprot_id": "TPP1_DANRE",
            "refseq_ac": "NP_001122270",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripeptidyl-peptidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.9",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl-peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 2",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tpp1",
                    "type": "recommended"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "cln2",
                    "type": "synonym"
                },
                {
                    "name": "fa01b09",
                    "type": "synonym"
                },
                {
                    "name": "im:7149243",
                    "type": "synonym"
                },
                {
                    "name": "tpp1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa01b09",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W2M8-1",
            "evidence": [
                {
                    "id": "0080059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O89023-1",
            "uniprot_ac": "O89023",
            "uniprot_id": "TPP1_MOUSE",
            "refseq_ac": "NP_034036",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripeptidyl-peptidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.9",
                    "type": "synonym"
                },
                {
                    "name": "LPIC",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal pepstatin-insensitive protease",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl-peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal pepstatin-insensitive protease",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpp1",
                    "type": "recommended"
                },
                {
                    "name": "Cln2",
                    "type": "synonym"
                },
                {
                    "name": "LPIC",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tpp1",
                    "type": "synonym"
                }
            ],
            "record_id": "O89023-1",
            "evidence": [
                {
                    "id": "0080059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14773-1",
            "uniprot_ac": "O14773",
            "uniprot_id": "TPP1_HUMAN",
            "refseq_ac": "NP_000382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripeptidyl-peptidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.9",
                    "type": "synonym"
                },
                {
                    "name": "Cell growth-inhibiting gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "LPIC",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal pepstatin-insensitive protease",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl-peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "cell growth-inhibiting gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "growth-inhibiting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal pepstatin insensitive protease",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal pepstatin-insensitive carboxypeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPP1",
                    "type": "recommended"
                },
                {
                    "name": "CLN2",
                    "type": "synonym"
                },
                {
                    "name": "GIG1",
                    "type": "synonym"
                },
                {
                    "name": "LPIC",
                    "type": "synonym"
                },
                {
                    "name": "PRO304",
                    "type": "synonym"
                },
                {
                    "name": "SCAR7",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP1",
                    "type": "synonym"
                }
            ],
            "record_id": "O14773-1",
            "evidence": [
                {
                    "id": "609270",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609270"
                },
                {
                    "id": "0080059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQV6-1",
            "uniprot_ac": "Q9EQV6",
            "uniprot_id": "TPP1_RAT",
            "refseq_ac": "NP_112647",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tripeptidyl-peptidase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.14.9",
                    "type": "synonym"
                },
                {
                    "name": "TPP-1",
                    "type": "synonym"
                },
                {
                    "name": "TPP-I",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Tripeptidyl-peptidase I",
                    "type": "synonym"
                },
                {
                    "name": "ceroid-lipofuscinosis, neuronal 2",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl aminopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tripeptidyl-peptidase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpp1",
                    "type": "recommended"
                },
                {
                    "name": "Cln2",
                    "type": "synonym"
                },
                {
                    "name": "Tpp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQV6-1",
            "evidence": [
                {
                    "id": "0080059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09139-1",
            "uniprot_ac": "P09139",
            "uniprot_id": "AGT1_RAT",
            "refseq_ac": "NP_001263635",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine--glyoxylate aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.44",
                    "type": "synonym"
                },
                {
                    "name": "2.6.1.51",
                    "type": "synonym"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "SPT",
                    "type": "synonym"
                },
                {
                    "name": "Serine--pyruvate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "alanine--glyoxylate and serine--pyruvate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "angiotensin receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, peroxisomal isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "serine--pyruvate aminotransferase, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "serine-pyruvate aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "serine:pyruvate aminotransferase SPT",
                    "type": "synonym"
                },
                {
                    "name": "serine:pyruvate/alanine:glyoxylate aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Agxt",
                    "type": "recommended"
                },
                {
                    "name": "AGT",
                    "type": "synonym"
                },
                {
                    "name": "Agt1",
                    "type": "synonym"
                },
                {
                    "name": "Agxt",
                    "type": "synonym"
                },
                {
                    "name": "SPT",
                    "type": "synonym"
                },
                {
                    "name": "Spat",
                    "type": "synonym"
                }
            ],
            "record_id": "P09139-1",
            "evidence": [
                {
                    "id": "0080059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080059"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080059"
}