{
    "disease_id": "DOID:0070412",
    "recommended_name": {
        "id": "DOID:0070412",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070412",
        "name": "autosomal recessive spinocerebellar ataxia 31",
        "description": "An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0070412",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070412",
            "name": "SCAR31",
            "description": ""
        },
        {
            "id": "MONDO:0030323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030323",
            "name": "spinocerebellar ataxia, autosomal recessive 31",
            "description": ""
        },
        {
            "id": "MONDO:0030323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030323",
            "name": "SCAR31",
            "description": ""
        },
        {
            "id": "MONDO:0030323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030323",
            "name": "spinocerebellar ataxia, autosomal recessive 31",
            "description": ""
        },
        {
            "id": "MIM:619422",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619422",
            "name": "Spinocerebellar ataxia, autosomal recessive, 31",
            "description": "Spinocerebellar ataxia, autosomal recessive, 31"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070412"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070412",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070412",
            "categories": []
        },
        {
            "id": "MONDO:0030323",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030323",
            "categories": []
        },
        {
            "id": "MIM:619422",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619422",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D906-1",
            "uniprot_ac": "Q9D906",
            "uniprot_id": "ATG7_MOUSE",
            "refseq_ac": "NP_001240646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme ATG7",
                    "type": "recommended"
                },
                {
                    "name": "APG7-like",
                    "type": "synonym"
                },
                {
                    "name": "ATG12-activating enzyme E1 ATG7",
                    "type": "synonym"
                },
                {
                    "name": "Autophagy-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme E1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "autophagy-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "mAGP7",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme ATG7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme ATG7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atg7",
                    "type": "recommended"
                },
                {
                    "name": "1810013K23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Agp7",
                    "type": "synonym"
                },
                {
                    "name": "Apg7l",
                    "type": "synonym"
                },
                {
                    "name": "Atg7l",
                    "type": "synonym"
                },
                {
                    "name": "Atg7",
                    "type": "synonym"
                },
                {
                    "name": "Gm21553",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D906-1",
            "evidence": [
                {
                    "id": "0070412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95352-1",
            "uniprot_ac": "O95352",
            "uniprot_id": "ATG7_HUMAN",
            "refseq_ac": "NP_001129503",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme ATG7",
                    "type": "recommended"
                },
                {
                    "name": "APG7 autophagy 7-like",
                    "type": "synonym"
                },
                {
                    "name": "APG7-like",
                    "type": "synonym"
                },
                {
                    "name": "ATG12-activating enzyme E1 ATG7",
                    "type": "synonym"
                },
                {
                    "name": "Autophagy-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme E1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "hAGP7",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme ATG7 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme ATG7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATG7",
                    "type": "recommended"
                },
                {
                    "name": "APG7-LIKE",
                    "type": "synonym"
                },
                {
                    "name": "APG7L",
                    "type": "synonym"
                },
                {
                    "name": "ATG7",
                    "type": "synonym"
                },
                {
                    "name": "GSA7",
                    "type": "synonym"
                },
                {
                    "name": "SCAR31",
                    "type": "synonym"
                }
            ],
            "record_id": "O95352-1",
            "evidence": [
                {
                    "id": "619422",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619422"
                },
                {
                    "id": "0070412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38862-1",
            "uniprot_ac": "P38862",
            "uniprot_id": "ATG7_YEAST",
            "refseq_ac": "NP_012041",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme ATG7",
                    "type": "recommended"
                },
                {
                    "name": "ATG12-activating enzyme E1 ATG7",
                    "type": "synonym"
                },
                {
                    "name": "Atg7p",
                    "type": "synonym"
                },
                {
                    "name": "Autophagy-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Cytoplasm to vacuole targeting protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATG7",
                    "type": "recommended"
                },
                {
                    "name": "APG11",
                    "type": "synonym"
                },
                {
                    "name": "APG7",
                    "type": "synonym"
                },
                {
                    "name": "ATG7",
                    "type": "synonym"
                },
                {
                    "name": "CVT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P38862-1",
            "evidence": [
                {
                    "id": "0070412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070412"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q641Y5-1",
            "uniprot_ac": "Q641Y5",
            "uniprot_id": "ATG7_RAT",
            "refseq_ac": "NP_001012097",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme ATG7",
                    "type": "recommended"
                },
                {
                    "name": "APG7-like",
                    "type": "synonym"
                },
                {
                    "name": "ATG12-activating enzyme E1 ATG7",
                    "type": "synonym"
                },
                {
                    "name": "ATG7 autophagy related 7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Autophagy-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "autophagy 7-like",
                    "type": "synonym"
                },
                {
                    "name": "autophagy-related protein 7",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme ATG7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atg7",
                    "type": "recommended"
                },
                {
                    "name": "Apg7l",
                    "type": "synonym"
                },
                {
                    "name": "Atg7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q641Y5-1",
            "evidence": [
                {
                    "id": "0070412",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070412"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070412"
}