{
    "disease_id": "DOID:0111254",
    "recommended_name": {
        "id": "DOID:0111254",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111254",
        "name": "glutaric acidemia I",
        "description": "An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111254",
            "name": "GA1",
            "description": ""
        },
        {
            "id": "DOID:0111254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111254",
            "name": "glutaric academia type 1",
            "description": ""
        },
        {
            "id": "DOID:0111254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111254",
            "name": "glutaric aciduria 1",
            "description": ""
        },
        {
            "id": "DOID:0111254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111254",
            "name": "glutaric aciduria type I",
            "description": ""
        },
        {
            "id": "DOID:0111254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111254",
            "name": "glutaryl-coA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111254",
            "name": "glutaryl-coenzyme A dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "glutaryl-CoA dehydrogenase deficiency",
            "description": "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder."
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "GA1",
            "description": ""
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "GCDHD",
            "description": ""
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "glutaric acidemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "glutaric aciduria type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "glutaric aciduria, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "glutaricaciduria, type I",
            "description": ""
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "glutaryl-CoA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "glutaryl-coenzyme A dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "glutaric acidemia 1",
            "description": ""
        },
        {
            "id": "MONDO:0009281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "name": "glutaric acidemia type I",
            "description": ""
        },
        {
            "id": "MIM:231670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231670",
            "name": "Glutaric aciduria 1",
            "description": "Glutaric aciduria 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111254"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111254",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111254",
            "categories": []
        },
        {
            "id": "MONDO:0009281",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009281",
            "categories": []
        },
        {
            "id": "MIM:231670",
            "database": "MIM",
            "url": "https://www.omim.org/entry/231670",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60759-1",
            "uniprot_ac": "Q60759",
            "uniprot_id": "GCDH_MOUSE",
            "refseq_ac": "NP_032123",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaryl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.6",
                    "type": "synonym"
                },
                {
                    "name": "GCD",
                    "type": "synonym"
                },
                {
                    "name": "glutaryl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcdh",
                    "type": "recommended"
                },
                {
                    "name": "9030411L18",
                    "type": "synonym"
                },
                {
                    "name": "GCD",
                    "type": "synonym"
                },
                {
                    "name": "Gcdh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60759-1",
            "evidence": [
                {
                    "id": "0111254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92947-1",
            "uniprot_ac": "Q92947",
            "uniprot_id": "GCDH_HUMAN",
            "refseq_ac": "NP_000150",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaryl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.6",
                    "type": "synonym"
                },
                {
                    "name": "GCD",
                    "type": "synonym"
                },
                {
                    "name": "glutaryl-CoA dehydrogenase, mitochondrial isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutaryl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glutaryl-Coenzyme A dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCDH",
                    "type": "recommended"
                },
                {
                    "name": "ACAD5",
                    "type": "synonym"
                },
                {
                    "name": "GCDH",
                    "type": "synonym"
                },
                {
                    "name": "GCD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92947-1",
            "evidence": [
                {
                    "id": "231670",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/231670"
                },
                {
                    "id": "0111254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZN89-1",
            "uniprot_ac": "A0A8I5ZN89",
            "uniprot_id": "A0A8I5ZN89_RAT",
            "refseq_ac": "NP_001102366",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutaryl-CoA dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.6",
                    "type": "synonym"
                },
                {
                    "name": "glutaryl-CoA dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "glutaryl-Coenzyme A dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcdh",
                    "type": "recommended"
                },
                {
                    "name": "Gcdh",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZN89-1",
            "evidence": [
                {
                    "id": "0111254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111254"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMC6-1",
            "uniprot_ac": "Q9VMC6",
            "uniprot_id": "Q9VMC6_DROME",
            "refseq_ac": "NP_609040",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "glutaryl-CoA dehydrogenase (ETF)",
                    "type": "recommended"
                },
                {
                    "name": "1.3.8.6",
                    "type": "synonym"
                },
                {
                    "name": "CG9547-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "152078_at",
                    "type": "recommended"
                },
                {
                    "name": "152078_at",
                    "type": "synonym"
                },
                {
                    "name": "CG9547",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9547",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9547",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMC6-1",
            "evidence": [
                {
                    "id": "0111254",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111254"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111254"
}