{
    "disease_id": "DOID:0081419",
    "recommended_name": {
        "id": "DOID:0081419",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081419",
        "name": "childhood-onset dystonia with optic atrophy and basal ganglia abnormalities",
        "description": "A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later."
    },
    "synonyms": [
        {
            "id": "DOID:0081419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "name": "DYSTONIA 29, CHILDHOOD-ONSET",
            "description": ""
        },
        {
            "id": "DOID:0081419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "name": "DYTOABG",
            "description": ""
        },
        {
            "id": "DOID:0081419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "name": "Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration",
            "description": ""
        },
        {
            "id": "DOID:0081419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "name": "MECR-related neurologic disorder",
            "description": ""
        },
        {
            "id": "DOID:0081419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "name": "MEPAN syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0015003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015003",
            "name": "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0015003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015003",
            "name": "DYTOABG",
            "description": ""
        },
        {
            "id": "MONDO:0015003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015003",
            "name": "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0015003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015003",
            "name": "dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG",
            "description": ""
        },
        {
            "id": "MIM:617282",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617282",
            "name": "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",
            "description": "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081419"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081419",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081419",
            "categories": []
        },
        {
            "id": "MONDO:0015003",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015003",
            "categories": []
        },
        {
            "id": "MIM:617282",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617282",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6GQN8-1",
            "uniprot_ac": "Q6GQN8",
            "uniprot_id": "MECR_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enoyl-[acyl-carrier-protein] reductase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.104",
                    "type": "synonym"
                },
                {
                    "name": "2-enoyl thioester reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mecr",
                    "type": "recommended"
                },
                {
                    "name": "zgc:110153",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6GQN8-1",
            "evidence": [
                {
                    "id": "0081419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DCS3-1",
            "uniprot_ac": "Q9DCS3",
            "uniprot_id": "MECR_MOUSE",
            "refseq_ac": "NP_079573",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enoyl-[acyl-carrier-protein] reductase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.104",
                    "type": "synonym"
                },
                {
                    "name": "2-enoyl thioester reductase",
                    "type": "synonym"
                },
                {
                    "name": "NRBF-1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-[acyl-carrier-protein] reductase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "trans-2-enoyl-CoA reductase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mecr",
                    "type": "recommended"
                },
                {
                    "name": "Mecr",
                    "type": "synonym"
                },
                {
                    "name": "NRBF-1",
                    "type": "synonym"
                },
                {
                    "name": "Nrbf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCS3-1",
            "evidence": [
                {
                    "id": "0081419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BV79-1",
            "uniprot_ac": "Q9BV79",
            "uniprot_id": "MECR_HUMAN",
            "refseq_ac": "NP_001019903",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enoyl-[acyl-carrier-protein] reductase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.104",
                    "type": "synonym"
                },
                {
                    "name": "2-enoyl thioester reductase",
                    "type": "synonym"
                },
                {
                    "name": "HsNrbf-1",
                    "type": "synonym"
                },
                {
                    "name": "NRBF-1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-[acyl-carrier-protein] reductase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast 2-enoyl thioester reductase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 2-enoyl thioester reductase",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "trans-2-enoyl-CoA reductase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MECR",
                    "type": "recommended"
                },
                {
                    "name": "CGI-63",
                    "type": "synonym"
                },
                {
                    "name": "DYTOABG",
                    "type": "synonym"
                },
                {
                    "name": "ETR1",
                    "type": "synonym"
                },
                {
                    "name": "FASN2B",
                    "type": "synonym"
                },
                {
                    "name": "MECR",
                    "type": "synonym"
                },
                {
                    "name": "NBRF1",
                    "type": "synonym"
                },
                {
                    "name": "NRBF1",
                    "type": "synonym"
                },
                {
                    "name": "OPA16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BV79-1",
            "evidence": [
                {
                    "id": "617282",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617282"
                },
                {
                    "id": "0081419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38071-1",
            "uniprot_ac": "P38071",
            "uniprot_id": "ETR1_YEAST",
            "refseq_ac": "NP_009582",
            "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": "Enoyl-[acyl-carrier-protein] reductase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.104",
                    "type": "synonym"
                },
                {
                    "name": "2-enoyl thioester reductase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial respiratory function protein 1",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-[acyl-carrier-protein] reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ETR1",
                    "type": "recommended"
                },
                {
                    "name": "ETR1",
                    "type": "synonym"
                },
                {
                    "name": "MRF1'",
                    "type": "synonym"
                },
                {
                    "name": "MRF1",
                    "type": "synonym"
                },
                {
                    "name": "YBR0310",
                    "type": "synonym"
                }
            ],
            "record_id": "P38071-1",
            "evidence": [
                {
                    "id": "0081419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z311-1",
            "uniprot_ac": "Q9Z311",
            "uniprot_id": "MECR_RAT",
            "refseq_ac": "NP_058905",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enoyl-[acyl-carrier-protein] reductase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.104",
                    "type": "synonym"
                },
                {
                    "name": "2-enoyl thioester reductase",
                    "type": "synonym"
                },
                {
                    "name": "NRBF-1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-[acyl-carrier-protein] reductase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-[acyl-carrier-protein] reductase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "trans-2-enoyl-CoA reductase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mecr",
                    "type": "recommended"
                },
                {
                    "name": "Mecr",
                    "type": "synonym"
                },
                {
                    "name": "Nrbf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z311-1",
            "evidence": [
                {
                    "id": "0081419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V6U9-1",
            "uniprot_ac": "Q9V6U9",
            "uniprot_id": "MECR_DROME",
            "refseq_ac": "NP_001286396",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Enoyl-[acyl-carrier-protein] reductase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.1.104",
                    "type": "synonym"
                },
                {
                    "name": "2-enoyl thioester reductase",
                    "type": "synonym"
                },
                {
                    "name": "CG16935-PB",
                    "type": "synonym"
                },
                {
                    "name": "Enoyl-[acyl-carrier-protein] reductase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial trans-2-enoyl-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "trans-2-enoyl-CoA reductase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mecr",
                    "type": "recommended"
                },
                {
                    "name": "CG16935",
                    "type": "synonym"
                },
                {
                    "name": "DM_7303260",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16935",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V6U9-1",
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                {
                    "id": "0081419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24534-1",
            "uniprot_ac": "P24534",
            "uniprot_id": "EF1B_HUMAN",
            "refseq_ac": "NP_001032752",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor 1-beta",
                    "type": "recommended"
                },
                {
                    "name": "EF-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "eEF-1B alpha",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor 1-beta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation elongation factor 1 beta 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EEF1B2",
                    "type": "recommended"
                },
                {
                    "name": "EEF1B1",
                    "type": "synonym"
                },
                {
                    "name": "EEF1B2",
                    "type": "synonym"
                },
                {
                    "name": "EEF1B",
                    "type": "synonym"
                },
                {
                    "name": "EF1B",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081419"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081419"
}