{
    "disease_id": "DOID:0061203",
    "recommended_name": {
        "id": "DOID:0061203",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061203",
        "name": "maple syrup urine disease type IA",
        "description": "A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0023691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023691",
            "name": "maple syrup urine disease type 1A",
            "description": "A maple syrup urine disease caused by mutations in BCKDHA."
        },
        {
            "id": "MONDO:0023691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023691",
            "name": "maple syrup urine disease type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0023691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023691",
            "name": "maple syrup urine disease, type IA",
            "description": ""
        },
        {
            "id": "MONDO:0023691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023691",
            "name": "MSUD type 1A",
            "description": ""
        },
        {
            "id": "MIM:248600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248600",
            "name": "Maple syrup urine disease 1A",
            "description": "Maple syrup urine disease 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061203"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061203",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061203",
            "categories": []
        },
        {
            "id": "MONDO:0023691",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023691",
            "categories": []
        },
        {
            "id": "MIM:248600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/248600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P50136-1",
            "uniprot_ac": "P50136",
            "uniprot_id": "ODBA_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.4",
                    "type": "synonym"
                },
                {
                    "name": "BCKDE1A",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH E1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdha",
                    "type": "recommended"
                }
            ],
            "record_id": "P50136-1",
            "evidence": [
                {
                    "id": "0061203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061203"
                }
            ]
        },
        {
            "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": "248600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/248600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12694-1",
            "uniprot_ac": "P12694",
            "uniprot_id": "ODBA_HUMAN",
            "refseq_ac": "NP_000700",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.4",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase (lipoamide)",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "BCKDE1A",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH E1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase E1 alpha protein",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase E1, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-keto acid dehydrogenase E1 component alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCKDHA",
                    "type": "recommended"
                },
                {
                    "name": "BCKDE1A",
                    "type": "synonym"
                },
                {
                    "name": "BCKDHA",
                    "type": "synonym"
                },
                {
                    "name": "MSUD1A",
                    "type": "synonym"
                },
                {
                    "name": "MSUD1",
                    "type": "synonym"
                },
                {
                    "name": "MSU",
                    "type": "synonym"
                },
                {
                    "name": "OVD1A",
                    "type": "synonym"
                }
            ],
            "record_id": "P12694-1",
            "evidence": [
                {
                    "id": "248600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/248600"
                },
                {
                    "id": "0061203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21953-1",
            "uniprot_ac": "P21953",
            "uniprot_id": "ODBB_HUMAN",
            "refseq_ac": "NP_000047",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.4",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "BCKDE1B",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH E1-beta",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-keto acid dehydrogenase E1 component beta chain",
                    "type": "synonym"
                },
                {
                    "name": "E1b-beta subunit of the branched-chain complex",
                    "type": "synonym"
                },
                {
                    "name": "branched chain alpha-ketoacid dehydrogenase E1-beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase E1 beta",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase E1, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-keto acid dehydrogenase E1 component beta chain",
                    "type": "synonym"
                },
                {
                    "name": "testis secretory sperm-binding protein Li 240mP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCKDHB",
                    "type": "recommended"
                },
                {
                    "name": "BCKDE1B",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH E1-beta",
                    "type": "synonym"
                },
                {
                    "name": "BCKDHB",
                    "type": "synonym"
                },
                {
                    "name": "E1B",
                    "type": "synonym"
                },
                {
                    "name": "MSUD1B",
                    "type": "synonym"
                },
                {
                    "name": "OVD1B",
                    "type": "synonym"
                }
            ],
            "record_id": "P21953-1",
            "evidence": [
                {
                    "id": "248600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/248600"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11960-1",
            "uniprot_ac": "P11960",
            "uniprot_id": "ODBA_RAT",
            "refseq_ac": "NP_036914",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.4",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "BCKDE1A",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH E1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "branched chain alpha-ketoacid dehydrogenase subunit E1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase subunit E1, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "branched chain ketoacid dehydrogenase E1, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-keto acid dehydrogenase E1 component alpha chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdha",
                    "type": "recommended"
                },
                {
                    "name": "BCKDA",
                    "type": "synonym"
                },
                {
                    "name": "Bckdha",
                    "type": "synonym"
                },
                {
                    "name": "E1a",
                    "type": "synonym"
                }
            ],
            "record_id": "P11960-1",
            "evidence": [
                {
                    "id": "0061203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHB8-1",
            "uniprot_ac": "Q9VHB8",
            "uniprot_id": "Q9VHB8_DROME",
            "refseq_ac": "NP_649905",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.4",
                    "type": "synonym"
                },
                {
                    "name": "BckdhA-PA",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "CG8199-PA",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase E1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain a-keto acid dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdha",
                    "type": "recommended"
                },
                {
                    "name": "BckdhA",
                    "type": "synonym"
                },
                {
                    "name": "CG8199",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8199",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8199",
                    "type": "synonym"
                },
                {
                    "name": "bckdhA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHB8-1",
            "evidence": [
                {
                    "id": "0061203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14993-1",
            "uniprot_ac": "Q14993",
            "uniprot_id": "COJA1_HUMAN",
            "refseq_ac": "NP_001849",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XIX) chain",
                    "type": "recommended"
                },
                {
                    "name": "Collagen alpha-1(Y) chain",
                    "type": "synonym"
                },
                {
                    "name": "a1 chain of type XIX collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen XIX, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha 1 (Y) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XIX) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XIX) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XIX, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL19A1",
                    "type": "recommended"
                },
                {
                    "name": "COL19A1",
                    "type": "synonym"
                },
                {
                    "name": "COL9A1L",
                    "type": "synonym"
                },
                {
                    "name": "D6S228E",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14993-1",
            "evidence": [
                {
                    "id": "0061203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061203"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061203"
}