{
    "disease_id": "DOID:0061204",
    "recommended_name": {
        "id": "DOID:0061204",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061204",
        "name": "dihydrolipoamide dehydrogenase deficiency",
        "description": "A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "pyruvate dehydrogenase E3 deficiency",
            "description": "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease."
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "DLD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "E3-deficient maple syrup urine disease",
            "description": ""
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "dihydrolipoamide dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "pyruvate dehydrogenase E3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "DLDD",
            "description": ""
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "maple syrup urine disease, type III",
            "description": ""
        },
        {
            "id": "MIM:246900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/246900",
            "name": "Dihydrolipoamide dehydrogenase deficiency",
            "description": "Dihydrolipoamide dehydrogenase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061204"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061204",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061204",
            "categories": []
        },
        {
            "id": "MONDO:0009529",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "categories": []
        },
        {
            "id": "MIM:246900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/246900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O08749-1",
            "uniprot_ac": "O08749",
            "uniprot_id": "DLDH_MOUSE",
            "refseq_ac": "NP_031887",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrolipoyl dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.8.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "branched chain alpha-keto acid dehydrogenase complex subunit E3",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyl dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyl dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dld",
                    "type": "recommended"
                },
                {
                    "name": "Dld",
                    "type": "synonym"
                }
            ],
            "record_id": "O08749-1",
            "evidence": [
                {
                    "id": "0061204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09622-1",
            "uniprot_ac": "P09622",
            "uniprot_id": "DLDH_HUMAN",
            "refseq_ac": "NP_000099",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrolipoyl dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.8.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "Glycine cleavage system L protein",
                    "type": "synonym"
                },
                {
                    "name": "diaphorase",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyl dehydrogenase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyl dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system L protein",
                    "type": "synonym"
                },
                {
                    "name": "glycine cleavage system protein L",
                    "type": "synonym"
                },
                {
                    "name": "lipoamide dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "lipoamide reductase",
                    "type": "synonym"
                },
                {
                    "name": "lipoyl dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "pyruvate dehydrogenase complex subunit E3, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, glycine cleavage system protein L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DLD",
                    "type": "recommended"
                },
                {
                    "name": "DLDD",
                    "type": "synonym"
                },
                {
                    "name": "DLDH",
                    "type": "synonym"
                },
                {
                    "name": "DLD",
                    "type": "synonym"
                },
                {
                    "name": "E3",
                    "type": "synonym"
                },
                {
                    "name": "GCSL",
                    "type": "synonym"
                },
                {
                    "name": "LAD",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E3",
                    "type": "synonym"
                },
                {
                    "name": "PHE3",
                    "type": "synonym"
                }
            ],
            "record_id": "P09622-1",
            "evidence": [
                {
                    "id": "246900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/246900"
                },
                {
                    "id": "0061204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09624-1",
            "uniprot_ac": "P09624",
            "uniprot_id": "DLDH_YEAST",
            "refseq_ac": "NP_116635",
            "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": "Dihydrolipoyl dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.8.1.4",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoglutarate dehydrogenase complex component E3",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-ketoglutarate dehydrogenase complex subunit E3",
                    "type": "synonym"
                },
                {
                    "name": "DLD",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide:NAD(+) oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "GDC subunit L",
                    "type": "synonym"
                },
                {
                    "name": "Glycine decarboxylase complex subunit L",
                    "type": "synonym"
                },
                {
                    "name": "Lipoamide dehydrogenase component of pyruvate dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "OGDC-E3",
                    "type": "synonym"
                },
                {
                    "name": "OGDHC subunit E3",
                    "type": "synonym"
                },
                {
                    "name": "PDC subunit E3",
                    "type": "synonym"
                },
                {
                    "name": "PDH complex subunit E3",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase complex E3 component",
                    "type": "synonym"
                },
                {
                    "name": "alpha-KGDHC subunit E3",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyl dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LPD1",
                    "type": "recommended"
                },
                {
                    "name": "DHLP1",
                    "type": "synonym"
                },
                {
                    "name": "HPD1",
                    "type": "synonym"
                },
                {
                    "name": "LPD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09624-1",
            "evidence": [
                {
                    "id": "0061204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P6R2-1",
            "uniprot_ac": "Q6P6R2",
            "uniprot_id": "DLDH_RAT",
            "refseq_ac": "NP_955417",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrolipoyl dehydrogenase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.8.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyl dehydrogenase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyl dehydrogenase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dld",
                    "type": "recommended"
                },
                {
                    "name": "Dld",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P6R2-1",
            "evidence": [
                {
                    "id": "0061204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061204"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20096-1",
            "uniprot_ac": "P20096",
            "uniprot_id": "IL4_RAT",
            "refseq_ac": "NP_958427",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-4",
                    "type": "recommended"
                },
                {
                    "name": "B-cell IGG differentiation factor",
                    "type": "synonym"
                },
                {
                    "name": "B-cell growth factor 1",
                    "type": "synonym"
                },
                {
                    "name": "B-cell stimulatory factor 1",
                    "type": "synonym"
                },
                {
                    "name": "BSF-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-4",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte stimulatory factor 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte stimulatory factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il4",
                    "type": "recommended"
                },
                {
                    "name": "Il-4",
                    "type": "synonym"
                },
                {
                    "name": "Il4e12",
                    "type": "synonym"
                },
                {
                    "name": "Il4",
                    "type": "synonym"
                }
            ],
            "record_id": "P20096-1",
            "evidence": [
                {
                    "id": "0061204",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061204"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061204"
}