{
    "disease_id": "DOID:0061207",
    "recommended_name": {
        "id": "DOID:0061207",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061207",
        "name": "maple syrup urine disease type II",
        "description": "A maple syrup urine disease that has_material_basis_in homozygous or compound heterozygous mutation in the DBT gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 1p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0023693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023693",
            "name": "maple syrup urine disease type 2",
            "description": "A maple syrup urine disease caused by mutations in DBT."
        },
        {
            "id": "MONDO:0023693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023693",
            "name": "maple syrup urine disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0023693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023693",
            "name": "MSUD type 2",
            "description": ""
        },
        {
            "id": "MONDO:0023693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023693",
            "name": "MSUD2",
            "description": ""
        },
        {
            "id": "MIM:620699",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620699",
            "name": "Maple syrup urine disease 2",
            "description": "Maple syrup urine disease 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061207"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061207",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061207",
            "categories": []
        },
        {
            "id": "MONDO:0023693",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023693",
            "categories": []
        },
        {
            "id": "MIM:620699",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620699",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P53395-1",
            "uniprot_ac": "P53395",
            "uniprot_id": "ODB2_MOUSE",
            "refseq_ac": "NP_034152",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.168",
                    "type": "synonym"
                },
                {
                    "name": "BCKAD-E2",
                    "type": "synonym"
                },
                {
                    "name": "BCKADE2",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-keto acid dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide branched chain transacylase",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-keto acid dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase, E2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyl transacylase",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyllysine-residue (2-methylpropanoyl)transferase",
                    "type": "synonym"
                },
                {
                    "name": "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "part of the BCKAD complex",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dbt",
                    "type": "recommended"
                },
                {
                    "name": "BCKAD E2",
                    "type": "synonym"
                },
                {
                    "name": "BCKAD-E2",
                    "type": "synonym"
                },
                {
                    "name": "D3Wsu60e",
                    "type": "synonym"
                },
                {
                    "name": "Dbt",
                    "type": "synonym"
                }
            ],
            "record_id": "P53395-1",
            "evidence": [
                {
                    "id": "0061207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11182-1",
            "uniprot_ac": "P11182",
            "uniprot_id": "ODB2_HUMAN",
            "refseq_ac": "NP_001909",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.168",
                    "type": "synonym"
                },
                {
                    "name": "52 kDa mitochondrial autoantigen of primary biliary cirrhosis",
                    "type": "synonym"
                },
                {
                    "name": "BCKAD E2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "BCKAD-E2",
                    "type": "synonym"
                },
                {
                    "name": "BCKADE2",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH-E2",
                    "type": "synonym"
                },
                {
                    "name": "BCOADC-E2",
                    "type": "synonym"
                },
                {
                    "name": "Branched chain 2-oxo-acid dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-keto acid dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoamide branched chain transacylase",
                    "type": "synonym"
                },
                {
                    "name": "Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase",
                    "type": "synonym"
                },
                {
                    "name": "E2 component of branched chain alpha-keto acid dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "branched chain 2-oxo-acid dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "branched chain acyltransferase, E2 component",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-keto acid dehydrogenase complex component E2",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyl transacylase",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoyllysine-residue (2-methylpropanoyl)transferase",
                    "type": "synonym"
                },
                {
                    "name": "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DBT",
                    "type": "recommended"
                },
                {
                    "name": "BCATE2",
                    "type": "synonym"
                },
                {
                    "name": "BCKAD-E2",
                    "type": "synonym"
                },
                {
                    "name": "BCKADE2",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH-E2",
                    "type": "synonym"
                },
                {
                    "name": "BCKDHE2",
                    "type": "synonym"
                },
                {
                    "name": "BCOADC-E2",
                    "type": "synonym"
                },
                {
                    "name": "DBT",
                    "type": "synonym"
                },
                {
                    "name": "E2B",
                    "type": "synonym"
                },
                {
                    "name": "E2",
                    "type": "synonym"
                }
            ],
            "record_id": "P11182-1",
            "evidence": [
                {
                    "id": "620699",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620699"
                },
                {
                    "id": "0061207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2GV15-1",
            "uniprot_ac": "B2GV15",
            "uniprot_id": "B2GV15_RAT",
            "refseq_ac": "NP_445764",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dbt",
                    "type": "recommended"
                },
                {
                    "name": "Dbt",
                    "type": "synonym"
                }
            ],
            "record_id": "B2GV15-1",
            "evidence": [
                {
                    "id": "0061207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061207"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXY3-1",
            "uniprot_ac": "Q9VXY3",
            "uniprot_id": "Q9VXY3_DROME",
            "refseq_ac": "NP_573000",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5599-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dbct-PA",
                    "type": "synonym"
                },
                {
                    "name": "dihydrolipoamide branched chain transacylase E2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dbct",
                    "type": "recommended"
                },
                {
                    "name": "CG5599",
                    "type": "synonym"
                },
                {
                    "name": "Dbct",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5599",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5599",
                    "type": "synonym"
                },
                {
                    "name": "dDBT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXY3-1",
            "evidence": [
                {
                    "id": "0061207",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061207"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061207"
}