{
    "disease_id": "DOID:0050985",
    "recommended_name": {
        "id": "DOID:0050985",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050985",
        "name": "spinocerebellar ataxia 38",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0014417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014417",
            "name": "spinocerebellar ataxia type 38",
            "description": "Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy."
        },
        {
            "id": "MONDO:0014417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014417",
            "name": "SCA38",
            "description": ""
        },
        {
            "id": "MONDO:0014417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014417",
            "name": "spinocerebellar ataxia type 38",
            "description": ""
        },
        {
            "id": "MONDO:0014417",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014417",
            "name": "spinocerebellar ataxia 38",
            "description": ""
        },
        {
            "id": "MIM:615957",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615957",
            "name": "Spinocerebellar ataxia 38",
            "description": "Spinocerebellar ataxia 38"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050985"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050985",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050985",
            "categories": []
        },
        {
            "id": "MONDO:0014417",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014417",
            "categories": []
        },
        {
            "id": "MIM:615957",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615957",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AA52Z2T5-1",
            "uniprot_ac": "A0AA52Z2T5",
            "uniprot_id": "A0AA52Z2T5_DANRE",
            "refseq_ac": "NP_956747",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation of very long chain fatty acids protein 5",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "3-keto acyl-CoA synthase ELOVL5",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL FA elongase 5",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL family member 5, elongation of long chain fatty acids",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL fatty acid elongase 5",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-ketoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-oxoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid elongase 5",
                    "type": "synonym"
                },
                {
                    "name": "very long chain fatty acid elongase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "elovl5",
                    "type": "recommended"
                },
                {
                    "name": "ELOVL5",
                    "type": "synonym"
                },
                {
                    "name": "elovl5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63549",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AA52Z2T5-1",
            "evidence": [
                {
                    "id": "0050985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BHI7-1",
            "uniprot_ac": "Q8BHI7",
            "uniprot_id": "ELOV5_MOUSE",
            "refseq_ac": "NP_599016",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very long chain fatty acid elongase 5",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "3-keto acyl-CoA synthase Elovl5",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL FA elongase 5",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL family member 5, elongation of long chain fatty acids",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL fatty acid elongase 5",
                    "type": "synonym"
                },
                {
                    "name": "Elongation of very long chain fatty acids protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-ketoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-oxoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids protein 5",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid elongase 1",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast long chain polyunsaturated fatty acid elongation enzyme",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-ketoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-oxoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "very long chain fatty acid elongase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elovl5",
                    "type": "recommended"
                },
                {
                    "name": "1110059L23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Elovl5",
                    "type": "synonym"
                },
                {
                    "name": "HELO1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BHI7-1",
            "evidence": [
                {
                    "id": "0050985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NYP7-1",
            "uniprot_ac": "Q9NYP7",
            "uniprot_id": "ELOV5_HUMAN",
            "refseq_ac": "NP_001229757",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very long chain fatty acid elongase 5",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "3-keto acyl-CoA synthase ELOVL5",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL FA elongase 5",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL fatty acid elongase 5",
                    "type": "synonym"
                },
                {
                    "name": "Elongation of very long chain fatty acids protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid elongase 1",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-ketoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-oxoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids protein 5",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid elongase 1",
                    "type": "synonym"
                },
                {
                    "name": "hELO1",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia 38",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-ketoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-oxoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "very long chain fatty acid elongase 5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "very long chain fatty acid elongase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELOVL5",
                    "type": "recommended"
                },
                {
                    "name": "ELOVL2",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL5",
                    "type": "synonym"
                },
                {
                    "name": "HELO1",
                    "type": "synonym"
                },
                {
                    "name": "PRO0530",
                    "type": "synonym"
                },
                {
                    "name": "SCA38",
                    "type": "synonym"
                },
                {
                    "name": "dJ483K16.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NYP7-1",
            "evidence": [
                {
                    "id": "615957",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615957"
                },
                {
                    "id": "0050985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40319-1",
            "uniprot_ac": "P40319",
            "uniprot_id": "ELO3_YEAST",
            "refseq_ac": "NP_013476",
            "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": "Fatty acid elongase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "3-keto acyl-CoA synthase ELO3",
                    "type": "synonym"
                },
                {
                    "name": "Affecting plasma membrane ATPase activity protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Elongation of fatty acids protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of RAD3 essential function protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of Rvs161 and Rvs167 mutations protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Very-long-chain 3-oxoacyl-CoA synthase 3",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid elongase ELO3",
                    "type": "synonym"
                },
                {
                    "name": "v-SNARE bypass mutant gene 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELO3",
                    "type": "recommended"
                },
                {
                    "name": "APA1",
                    "type": "synonym"
                },
                {
                    "name": "ELO3",
                    "type": "synonym"
                },
                {
                    "name": "L8039.2",
                    "type": "synonym"
                },
                {
                    "name": "SRE1",
                    "type": "synonym"
                },
                {
                    "name": "SUR4",
                    "type": "synonym"
                },
                {
                    "name": "VBM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40319-1",
            "evidence": [
                {
                    "id": "0050985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25358-1",
            "uniprot_ac": "P25358",
            "uniprot_id": "ELO2_YEAST",
            "refseq_ac": "NP_009963",
            "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": "Fatty acid elongase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "3-keto acyl-CoA synthase ELO2",
                    "type": "synonym"
                },
                {
                    "name": "Elongation of fatty acids protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Fenpropimorph resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Glucan synthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Very-long-chain 3-oxoacyl-CoA synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid elongase ELO2",
                    "type": "synonym"
                },
                {
                    "name": "v-SNARE bypass mutant gene 2 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELO2",
                    "type": "recommended"
                },
                {
                    "name": "ELO2",
                    "type": "synonym"
                },
                {
                    "name": "FEN1",
                    "type": "synonym"
                },
                {
                    "name": "GNS1",
                    "type": "synonym"
                },
                {
                    "name": "VBM2",
                    "type": "synonym"
                },
                {
                    "name": "YCR34W",
                    "type": "synonym"
                },
                {
                    "name": "YCR521",
                    "type": "synonym"
                }
            ],
            "record_id": "P25358-1",
            "evidence": [
                {
                    "id": "0050985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050985"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q920L7-1",
            "uniprot_ac": "Q920L7",
            "uniprot_id": "ELOV5_RAT",
            "refseq_ac": "NP_599209",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Very long chain fatty acid elongase 5",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "3-keto acyl-CoA synthase Elovl5",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL FA elongase 5",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL family member 5, elongation of long chain fatty acids",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL fatty acid elongase 5",
                    "type": "synonym"
                },
                {
                    "name": "Elongation of very long chain fatty acids protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid elongase 1",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-ketoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-oxoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "elongation of long chain fatty acids family member 5",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids protein 5",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids-like 5",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid elongase 1",
                    "type": "synonym"
                },
                {
                    "name": "rELO1",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-ketoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-oxoacyl-CoA synthase 5",
                    "type": "synonym"
                },
                {
                    "name": "very long chain fatty acid elongase 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elovl5",
                    "type": "recommended"
                },
                {
                    "name": "Elovl5",
                    "type": "synonym"
                },
                {
                    "name": "rELO1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q920L7-1",
            "evidence": [
                {
                    "id": "0050985",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050985"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050985"
}