{
    "disease_id": "DOID:0061206",
    "recommended_name": {
        "id": "DOID:0061206",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061206",
        "name": "maple syrup urine disease type IB",
        "description": "A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0023692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "name": "maple syrup urine disease type 1B",
            "description": "A maple syrup urine disease caused by mutations in BCKDHB."
        },
        {
            "id": "MONDO:0023692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "name": "maple syrup urine disease type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0023692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "name": "MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex",
            "description": ""
        },
        {
            "id": "MONDO:0023692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "name": "MSUD type 3 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0023692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "name": "MSUD type IB",
            "description": ""
        },
        {
            "id": "MIM:620698",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620698",
            "name": "Maple syrup urine disease 1B",
            "description": "Maple syrup urine disease 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061206"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061206",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061206",
            "categories": []
        },
        {
            "id": "MONDO:0023692",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "categories": []
        },
        {
            "id": "MIM:620698",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620698",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P3A8-1",
            "uniprot_ac": "Q6P3A8",
            "uniprot_id": "ODBB_MOUSE",
            "refseq_ac": "NP_001292864",
            "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 beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.4",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial isoform 1",
                    "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": "branched-chain alpha-keto acid dehydrogenase E1 component beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdhb",
                    "type": "recommended"
                },
                {
                    "name": "BCKDE1B",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH E1-beta",
                    "type": "synonym"
                },
                {
                    "name": "Bckdhb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P3A8-1",
            "evidence": [
                {
                    "id": "0061206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061206"
                }
            ]
        },
        {
            "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": "620698",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620698"
                },
                {
                    "id": "0061206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35738-1",
            "uniprot_ac": "P35738",
            "uniprot_id": "ODBB_RAT",
            "refseq_ac": "NP_062140",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.4",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "2-oxoisovalerate dehydrogenase subunit beta, mitochondrial 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": "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"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdhb",
                    "type": "recommended"
                },
                {
                    "name": "BCKDE1B",
                    "type": "synonym"
                },
                {
                    "name": "Bckdhb",
                    "type": "synonym"
                }
            ],
            "record_id": "P35738-1",
            "evidence": [
                {
                    "id": "0061206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7PLE6-1",
            "uniprot_ac": "Q7PLE6",
            "uniprot_id": "Q7PLE6_DROME",
            "refseq_ac": "NP_001015354",
            "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 beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.2.4.4",
                    "type": "synonym"
                },
                {
                    "name": "BckdhB-PE",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-keto acid dehydrogenase E1 component beta chain",
                    "type": "synonym"
                },
                {
                    "name": "CG17691-PE",
                    "type": "synonym"
                },
                {
                    "name": "branched chain keto acid dehydrogenase E1 subunit beta, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain a-keto acid dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdhb",
                    "type": "recommended"
                },
                {
                    "name": "BckdhB",
                    "type": "synonym"
                },
                {
                    "name": "CG17691",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17691",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17691",
                    "type": "synonym"
                },
                {
                    "name": "bckdhB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7PLE6-1",
            "evidence": [
                {
                    "id": "0061206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061206"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02452-1",
            "uniprot_ac": "P02452",
            "uniprot_id": "CO1A1_HUMAN",
            "refseq_ac": "NP_000079",
            "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(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha1(I) procollagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen Col1-ColIII-1",
                    "type": "synonym"
                },
                {
                    "name": "collagen Col1-ColIII-2",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha 1 chain type I",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(I) chain preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen of skin, tendon and bone, alpha-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "pro-alpha-1 collagen type 1",
                    "type": "synonym"
                },
                {
                    "name": "type I proalpha 1",
                    "type": "synonym"
                },
                {
                    "name": "type I procollagen alpha 1 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL1A1",
                    "type": "recommended"
                },
                {
                    "name": "CAFYD",
                    "type": "synonym"
                },
                {
                    "name": "COL1A1",
                    "type": "synonym"
                },
                {
                    "name": "EDSARTH1",
                    "type": "synonym"
                },
                {
                    "name": "EDSC",
                    "type": "synonym"
                },
                {
                    "name": "OI1",
                    "type": "synonym"
                },
                {
                    "name": "OI2",
                    "type": "synonym"
                },
                {
                    "name": "OI3",
                    "type": "synonym"
                },
                {
                    "name": "OI4",
                    "type": "synonym"
                }
            ],
            "record_id": "P02452-1",
            "evidence": [
                {
                    "id": "0061206",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061206"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061206"
}