{
    "disease_id": "DOID:0050981",
    "recommended_name": {
        "id": "DOID:0050981",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050981",
        "name": "spinocerebellar ataxia 34",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "spinocerebellar ataxia type 34",
            "description": "A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes."
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "Erythrokeratodermia with Ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "SCA34",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "erythrokeratodermia with ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "spinocerebellar ataxia and erythrokeratodermia",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "spinocerebellar ataxia type 34",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "Giroux Barbeau syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "erythrokeratodermia - ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0007574",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "name": "spinocerebellar ataxia 34",
            "description": ""
        },
        {
            "id": "MIM:133190",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/133190",
            "name": "Spinocerebellar ataxia 34",
            "description": "Spinocerebellar ataxia 34"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050981"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050981",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050981",
            "categories": []
        },
        {
            "id": "MONDO:0007574",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007574",
            "categories": []
        },
        {
            "id": "MIM:133190",
            "database": "MIM",
            "url": "https://www.omim.org/entry/133190",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9EQC4-1",
            "uniprot_ac": "Q9EQC4",
            "uniprot_id": "ELOV4_MOUSE",
            "refseq_ac": "NP_683743",
            "glycoprotein": "yes",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "3-keto acyl-CoA synthase Elovl4",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL FA elongase 4",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL fatty acid elongase 4",
                    "type": "synonym"
                },
                {
                    "name": "Elongation of very long chain fatty acids protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-ketoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-oxoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids protein 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-ketoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-oxoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain fatty acid elongase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elovl4",
                    "type": "recommended"
                },
                {
                    "name": "Elovl4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQC4-1",
            "evidence": [
                {
                    "id": "0050981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZR5-1",
            "uniprot_ac": "Q9GZR5",
            "uniprot_id": "ELOV4_HUMAN",
            "refseq_ac": "NP_073563",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "3-keto acyl-CoA synthase ELOVL4",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL FA elongase 4",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL fatty acid elongase 4",
                    "type": "synonym"
                },
                {
                    "name": "Elongation of very long chain fatty acids protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-ketoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-oxoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 118",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids protein 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-ketoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain 3-oxoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain fatty acid elongase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELOVL4",
                    "type": "recommended"
                },
                {
                    "name": "ADMD",
                    "type": "synonym"
                },
                {
                    "name": "CT118",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL4",
                    "type": "synonym"
                },
                {
                    "name": "ISQMR",
                    "type": "synonym"
                },
                {
                    "name": "SCA34",
                    "type": "synonym"
                },
                {
                    "name": "STGD2",
                    "type": "synonym"
                },
                {
                    "name": "STGD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZR5-1",
            "evidence": [
                {
                    "id": "133190",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/133190"
                },
                {
                    "id": "0050981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050981"
                }
            ]
        },
        {
            "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": "0050981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ACH5-1",
            "uniprot_ac": "D4ACH5",
            "uniprot_id": "D4ACH5_RAT",
            "refseq_ac": "NP_001178725",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation of very long chain fatty acids protein 4",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "3-keto acyl-CoA synthase ELOVL4",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL FA elongase 4",
                    "type": "synonym"
                },
                {
                    "name": "ELOVL fatty acid elongase 4",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-ketoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "Very long chain 3-oxoacyl-CoA synthase 4",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids protein 4",
                    "type": "synonym"
                },
                {
                    "name": "elongation of very long chain fatty acids-like 4",
                    "type": "synonym"
                },
                {
                    "name": "very long chain fatty acid elongase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elovl4",
                    "type": "recommended"
                },
                {
                    "name": "ELOVL4",
                    "type": "synonym"
                },
                {
                    "name": "Elovl4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ACH5-1",
            "evidence": [
                {
                    "id": "0050981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050981"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8JNR0-1",
            "uniprot_ac": "A8JNR0",
            "uniprot_id": "A8JNR0_DROME",
            "refseq_ac": "NP_001097580",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation of very long chain fatty acids protein",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.199",
                    "type": "synonym"
                },
                {
                    "name": "CG11801-PB",
                    "type": "synonym"
                },
                {
                    "name": "Elo68beta-PB",
                    "type": "synonym"
                },
                {
                    "name": "Very-long-chain 3-oxoacyl-CoA synthase",
                    "type": "synonym"
                },
                {
                    "name": "elongase 68beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elo68beta",
                    "type": "recommended"
                },
                {
                    "name": "CG11801",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11801",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11801",
                    "type": "synonym"
                },
                {
                    "name": "Elo68beta",
                    "type": "synonym"
                },
                {
                    "name": "elo68beta",
                    "type": "synonym"
                }
            ],
            "record_id": "A8JNR0-1",
            "evidence": [
                {
                    "id": "0050981",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050981"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050981"
}