{
    "disease_id": "DOID:0050958",
    "recommended_name": {
        "id": "DOID:0050958",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050958",
        "name": "spinocerebellar ataxia 7",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "spinocerebellar ataxia 7",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "ADCA2",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "ADCAII",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "ATXN7 autosomal dominant cerebellar ataxia type II",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "SCA7",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "ataxia with pigmentary retinopathy",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "autosomal dominant cerebellar ataxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "autosomal dominant cerebellar ataxia type II",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "cerebellar syndrome-pigmentary maculopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "spinocerebellar ataxia 7",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "spinocerebellar ataxia type 7",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "ADCA, type II",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "OPCA III",
            "description": ""
        },
        {
            "id": "MONDO:0016163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "name": "OPCA3",
            "description": ""
        },
        {
            "id": "MIM:164500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/164500",
            "name": "Spinocerebellar ataxia 7",
            "description": "Spinocerebellar ataxia 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050958"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050958",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050958",
            "categories": []
        },
        {
            "id": "MONDO:0016163",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0016163",
            "categories": []
        },
        {
            "id": "MIM:164500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/164500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R4I1-1",
            "uniprot_ac": "Q8R4I1",
            "uniprot_id": "ATX7_MOUSE",
            "refseq_ac": "NP_631973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-7",
                    "type": "recommended"
                },
                {
                    "name": "Spinocerebellar ataxia type 7 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia 7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia type 7 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atxn7",
                    "type": "recommended"
                },
                {
                    "name": "A430107N12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atxn7",
                    "type": "synonym"
                },
                {
                    "name": "Sca7",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R4I1-1",
            "evidence": [
                {
                    "id": "0050958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15265-1",
            "uniprot_ac": "O15265",
            "uniprot_id": "ATX7_HUMAN",
            "refseq_ac": "NP_000324",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-7",
                    "type": "recommended"
                },
                {
                    "name": "Autosomal dominant cerebellar ataxia with retinal degeneration",
                    "type": "synonym"
                },
                {
                    "name": "SAGA associated factor 73 kDa homolog",
                    "type": "synonym"
                },
                {
                    "name": "Spinocerebellar ataxia type 7 protein",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia type 7 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATXN7",
                    "type": "recommended"
                },
                {
                    "name": "ADCAII",
                    "type": "synonym"
                },
                {
                    "name": "ATXN7",
                    "type": "synonym"
                },
                {
                    "name": "OPCA3",
                    "type": "synonym"
                },
                {
                    "name": "SCA7",
                    "type": "synonym"
                },
                {
                    "name": "SGF73",
                    "type": "synonym"
                }
            ],
            "record_id": "O15265-1",
            "evidence": [
                {
                    "id": "164500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/164500"
                },
                {
                    "id": "0050958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53165-1",
            "uniprot_ac": "P53165",
            "uniprot_id": "SGF73_YEAST",
            "refseq_ac": "NP_011449",
            "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": "SAGA complex subunit SGF73",
                    "type": "recommended"
                },
                {
                    "name": "73 kDa SAGA-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "SAGA histone acetyltransferase complex 73 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "SAGA-associated factor 73",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitination module subunit SGF73",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SGF73",
                    "type": "recommended"
                },
                {
                    "name": "SCA7",
                    "type": "synonym"
                },
                {
                    "name": "SGF73",
                    "type": "synonym"
                }
            ],
            "record_id": "P53165-1",
            "evidence": [
                {
                    "id": "0050958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G445-1",
            "uniprot_ac": "A0A8I6G445",
            "uniprot_id": "A0A8I6G445_RAT",
            "refseq_ac": "XP_017455330",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin 7",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atxn7",
                    "type": "recommended"
                },
                {
                    "name": "Atxn7",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562692",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6G445-1",
            "evidence": [
                {
                    "id": "0050958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M9V0-1",
            "uniprot_ac": "F1M9V0",
            "uniprot_id": "F1M9V0_RAT",
            "refseq_ac": "XP_063118159",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin 7-like 1",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7-like protein 1 isoform X20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atxn7l1",
                    "type": "recommended"
                },
                {
                    "name": "Atxn7l1",
                    "type": "synonym"
                },
                {
                    "name": "Atxn7l4",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305730",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564242",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M9V0-1",
            "evidence": [
                {
                    "id": "0050958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LP53-1",
            "uniprot_ac": "A0ABK0LP53",
            "uniprot_id": "A0ABK0LP53_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": "Ataxin 7-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atxn7l2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LP53-1",
            "evidence": [
                {
                    "id": "0050958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQB6-1",
            "uniprot_ac": "Q9VQB6",
            "uniprot_id": "ATX7_DROME",
            "refseq_ac": "NP_001259932",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-7",
                    "type": "recommended"
                },
                {
                    "name": "Ataxin-7",
                    "type": "synonym"
                },
                {
                    "name": "Atxn7-PC",
                    "type": "synonym"
                },
                {
                    "name": "CG9866-PC",
                    "type": "synonym"
                },
                {
                    "name": "ataxin 7, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atxn7",
                    "type": "recommended"
                },
                {
                    "name": "Ataxin7",
                    "type": "synonym"
                },
                {
                    "name": "Atxn7",
                    "type": "synonym"
                },
                {
                    "name": "CG9866",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9866",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7",
                    "type": "synonym"
                },
                {
                    "name": "dATXN7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQB6-1",
            "evidence": [
                {
                    "id": "0050958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULK2-1",
            "uniprot_ac": "Q9ULK2",
            "uniprot_id": "AT7L1_HUMAN",
            "refseq_ac": "NP_065776",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-7-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Ataxin-7-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "ataxin 7-like 4",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7-like protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7-like protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATXN7L1",
                    "type": "recommended"
                },
                {
                    "name": "ATXN7L1",
                    "type": "synonym"
                },
                {
                    "name": "ATXN7L4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1218",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULK2-1",
            "evidence": [
                {
                    "id": "0050958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T6C5-1",
            "uniprot_ac": "Q5T6C5",
            "uniprot_id": "AT7L2_HUMAN",
            "refseq_ac": "NP_699171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-7-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ataxin 7-like 1",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7-like protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-7-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATXN7L2",
                    "type": "recommended"
                },
                {
                    "name": "ATXN7L2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T6C5-1",
            "evidence": [
                {
                    "id": "0050958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050958"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050958"
}