{
    "disease_id": "DOID:0080259",
    "recommended_name": {
        "id": "DOID:0080259",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080259",
        "name": "autosomal recessive spinocerebellar ataxia 25",
        "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080259",
            "name": "SCAR25",
            "description": ""
        },
        {
            "id": "MONDO:0033115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033115",
            "name": "spinocerebellar ataxia, autosomal recessive 25",
            "description": ""
        },
        {
            "id": "MONDO:0033115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033115",
            "name": "spinocerebellar ataxia, autosomal recessive 25",
            "description": ""
        },
        {
            "id": "MONDO:0033115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033115",
            "name": "SCAR25",
            "description": ""
        },
        {
            "id": "MIM:617584",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617584",
            "name": "Spinocerebellar ataxia, autosomal recessive, 25",
            "description": "Spinocerebellar ataxia, autosomal recessive, 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080259"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080259",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080259",
            "categories": []
        },
        {
            "id": "MONDO:0033115",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033115",
            "categories": []
        },
        {
            "id": "MIM:617584",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617584",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RDC0-1",
            "uniprot_ac": "F1RDC0",
            "uniprot_id": "F1RDC0_DANRE",
            "refseq_ac": "NP_001009914",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Autophagy protein 5",
                    "type": "recommended"
                },
                {
                    "name": "autophagy 5-like protein",
                    "type": "synonym"
                },
                {
                    "name": "autophagy protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atg5",
                    "type": "recommended"
                },
                {
                    "name": "apg5l",
                    "type": "synonym"
                },
                {
                    "name": "atg5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100934",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RDC0-1",
            "evidence": [
                {
                    "id": "0080259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99J83-1",
            "uniprot_ac": "Q99J83",
            "uniprot_id": "ATG5_MOUSE",
            "refseq_ac": "NP_001300942",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Autophagy protein 5",
                    "type": "recommended"
                },
                {
                    "name": "APG5-like",
                    "type": "synonym"
                },
                {
                    "name": "autophagy protein 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "autophagy protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atg5",
                    "type": "recommended"
                },
                {
                    "name": "2010107M05Rik",
                    "type": "synonym"
                },
                {
                    "name": "3110067M24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Apg5l",
                    "type": "synonym"
                },
                {
                    "name": "Atg5l",
                    "type": "synonym"
                },
                {
                    "name": "Atg5",
                    "type": "synonym"
                },
                {
                    "name": "Paddy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99J83-1",
            "evidence": [
                {
                    "id": "0080259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H1Y0-1",
            "uniprot_ac": "Q9H1Y0",
            "uniprot_id": "ATG5_HUMAN",
            "refseq_ac": "NP_001273035",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Autophagy protein 5",
                    "type": "recommended"
                },
                {
                    "name": "APG5 autophagy 5-like",
                    "type": "synonym"
                },
                {
                    "name": "APG5-like",
                    "type": "synonym"
                },
                {
                    "name": "ATG5 autophagy related 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Apoptosis-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "autophagy protein 5 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATG5",
                    "type": "recommended"
                },
                {
                    "name": "APG5-LIKE",
                    "type": "synonym"
                },
                {
                    "name": "APG5L",
                    "type": "synonym"
                },
                {
                    "name": "APG5",
                    "type": "synonym"
                },
                {
                    "name": "ASP",
                    "type": "synonym"
                },
                {
                    "name": "ATG5",
                    "type": "synonym"
                },
                {
                    "name": "SCAR25",
                    "type": "synonym"
                },
                {
                    "name": "hAPG5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H1Y0-1",
            "evidence": [
                {
                    "id": "617584",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617584"
                },
                {
                    "id": "0080259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12380-1",
            "uniprot_ac": "Q12380",
            "uniprot_id": "ATG5_YEAST",
            "refseq_ac": "NP_015176",
            "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": "Autophagy protein 5",
                    "type": "recommended"
                },
                {
                    "name": "Atg5p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATG5",
                    "type": "recommended"
                },
                {
                    "name": "APG5",
                    "type": "synonym"
                },
                {
                    "name": "ATG5",
                    "type": "synonym"
                },
                {
                    "name": "P2601",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12380-1",
            "evidence": [
                {
                    "id": "0080259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3MQ06-1",
            "uniprot_ac": "Q3MQ06",
            "uniprot_id": "ATG5_RAT",
            "refseq_ac": "NP_001385949",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Autophagy protein 5",
                    "type": "recommended"
                },
                {
                    "name": "ATG5 autophagy related 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "autophagy protein 5 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "autophagy protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atg5",
                    "type": "recommended"
                },
                {
                    "name": "Atg5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3MQ06-1",
            "evidence": [
                {
                    "id": "0080259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3R7-1",
            "uniprot_ac": "Q9W3R7",
            "uniprot_id": "ATG5_DROME",
            "refseq_ac": "NP_572390",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Autophagy protein 5",
                    "type": "recommended"
                },
                {
                    "name": "APG5-like",
                    "type": "synonym"
                },
                {
                    "name": "Atg5-PA",
                    "type": "synonym"
                },
                {
                    "name": "Autophagy-related 5",
                    "type": "synonym"
                },
                {
                    "name": "CG1643-PA",
                    "type": "synonym"
                },
                {
                    "name": "autophagy-specific gene 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atg5",
                    "type": "recommended"
                },
                {
                    "name": "ATG5",
                    "type": "synonym"
                },
                {
                    "name": "Atg-5",
                    "type": "synonym"
                },
                {
                    "name": "Atg5",
                    "type": "synonym"
                },
                {
                    "name": "CG1643",
                    "type": "synonym"
                },
                {
                    "name": "DmAtg5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1643",
                    "type": "synonym"
                },
                {
                    "name": "atg5",
                    "type": "synonym"
                },
                {
                    "name": "dAtg5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3R7-1",
            "evidence": [
                {
                    "id": "0080259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080259"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080259"
}