{
    "disease_id": "DOID:0111615",
    "recommended_name": {
        "id": "DOID:0111615",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111615",
        "name": "autosomal recessive spinocerebellar ataxia 24",
        "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111615",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111615",
            "name": "SCAR24",
            "description": ""
        },
        {
            "id": "MONDO:0014934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014934",
            "name": "spinocerebellar ataxia, autosomal recessive 24",
            "description": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene."
        },
        {
            "id": "MONDO:0014934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014934",
            "name": "SCAR24",
            "description": ""
        },
        {
            "id": "MONDO:0014934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014934",
            "name": "UBA5 autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0014934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014934",
            "name": "autosomal recessive cerebellar ataxia caused by mutation in UBA5",
            "description": ""
        },
        {
            "id": "MONDO:0014934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014934",
            "name": "spinocerebellar ataxia, autosomal recessive 24",
            "description": ""
        },
        {
            "id": "MONDO:0014934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014934",
            "name": "spinocerebellar ataxia, autosomal recessive 24; SCAR24",
            "description": ""
        },
        {
            "id": "MONDO:0014934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014934",
            "name": "spinocerebellar ataxia, autosomal recessive type 24",
            "description": ""
        },
        {
            "id": "MIM:617133",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617133",
            "name": "Spinocerebellar ataxia, autosomal recessive, 24",
            "description": "Spinocerebellar ataxia, autosomal recessive, 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111615"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111615",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111615",
            "categories": []
        },
        {
            "id": "MONDO:0014934",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014934",
            "categories": []
        },
        {
            "id": "MIM:617133",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617133",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QGC0-1",
            "uniprot_ac": "A0A2R8QGC0",
            "uniprot_id": "A0A2R8QGC0_DANRE",
            "refseq_ac": "NP_001292546",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 5",
                    "type": "recommended"
                },
                {
                    "name": "UFM1-activating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "uba5",
                    "type": "recommended"
                },
                {
                    "name": "cb972",
                    "type": "synonym"
                },
                {
                    "name": "uba5",
                    "type": "synonym"
                },
                {
                    "name": "ube1dc1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QGC0-1",
            "evidence": [
                {
                    "id": "0111615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VE47-1",
            "uniprot_ac": "Q8VE47",
            "uniprot_id": "UBA5_MOUSE",
            "refseq_ac": "NP_079968",
            "glycoprotein": "no",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "UFM1-activating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uba5",
                    "type": "recommended"
                },
                {
                    "name": "5730525G14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Uba5",
                    "type": "synonym"
                },
                {
                    "name": "Ube1dc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VE47-1",
            "evidence": [
                {
                    "id": "0111615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZZ9-1",
            "uniprot_ac": "Q9GZZ9",
            "uniprot_id": "UBA5_HUMAN",
            "refseq_ac": "NP_001307139",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "ThiFP1",
                    "type": "synonym"
                },
                {
                    "name": "UBA5, ubiquitin-activating enzyme E1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UFM1-activating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme E1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 5 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBA5",
                    "type": "recommended"
                },
                {
                    "name": "DEE44",
                    "type": "synonym"
                },
                {
                    "name": "EIEE44",
                    "type": "synonym"
                },
                {
                    "name": "SCAR24",
                    "type": "synonym"
                },
                {
                    "name": "THIFP1",
                    "type": "synonym"
                },
                {
                    "name": "UBA5",
                    "type": "synonym"
                },
                {
                    "name": "UBE1DC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZZ9-1",
            "evidence": [
                {
                    "id": "617133",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617133"
                },
                {
                    "id": "0111615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M7A4-1",
            "uniprot_ac": "Q5M7A4",
            "uniprot_id": "UBA5_RAT",
            "refseq_ac": "NP_001009669",
            "glycoprotein": "no",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "UFM1-activating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uba5",
                    "type": "recommended"
                },
                {
                    "name": "Uba5",
                    "type": "synonym"
                },
                {
                    "name": "Ube1dc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M7A4-1",
            "evidence": [
                {
                    "id": "0111615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111615"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYY3-1",
            "uniprot_ac": "Q9VYY3",
            "uniprot_id": "UBA5_DROME",
            "refseq_ac": "NP_572722",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 5",
                    "type": "recommended"
                },
                {
                    "name": "CG1749-PA",
                    "type": "synonym"
                },
                {
                    "name": "UFM1-activating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Uba5 homologue",
                    "type": "synonym"
                },
                {
                    "name": "Uba5-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-like activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin activating enzyme 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uba5",
                    "type": "recommended"
                },
                {
                    "name": "CG1749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1749",
                    "type": "synonym"
                },
                {
                    "name": "MoeB",
                    "type": "synonym"
                },
                {
                    "name": "Uba5",
                    "type": "synonym"
                },
                {
                    "name": "dMoaD",
                    "type": "synonym"
                },
                {
                    "name": "dUBA5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYY3-1",
            "evidence": [
                {
                    "id": "0111615",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111615"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111615"
}