{
    "disease_id": "DOID:0090126",
    "recommended_name": {
        "id": "DOID:0090126",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090126",
        "name": "branched-chain keto acid dehydrogenase kinase deficiency",
        "description": "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11."
    },
    "synonyms": [
        {
            "id": "DOID:0090126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090126",
            "name": "BCKDK deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090126",
            "name": "BCKDKD",
            "description": ""
        },
        {
            "id": "DOID:0090126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090126",
            "name": "autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "branched-chain keto acid dehydrogenase kinase deficiency",
            "description": "A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids."
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "BCKDK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "BCKDKD",
            "description": ""
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013970",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "name": "branched-chain keto acid dehydrogenase kinase deficiency",
            "description": ""
        },
        {
            "id": "MIM:614923",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614923",
            "name": "Branched-chain ketoacid dehydrogenase kinase deficiency",
            "description": "Branched-chain ketoacid dehydrogenase kinase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090126"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090126",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090126",
            "categories": []
        },
        {
            "id": "MONDO:0013970",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013970",
            "categories": []
        },
        {
            "id": "MIM:614923",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614923",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0R159-1",
            "uniprot_ac": "B0R159",
            "uniprot_id": "B0R159_DANRE",
            "refseq_ac": "NP_998225",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein-serine/threonine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.-",
                    "type": "synonym"
                },
                {
                    "name": "branched chain alpha-ketoacid dehydrogenase kinase",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bckdk",
                    "type": "recommended"
                },
                {
                    "name": "bckdk",
                    "type": "synonym"
                },
                {
                    "name": "cb233",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa04g07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb80b08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55984",
                    "type": "synonym"
                }
            ],
            "record_id": "B0R159-1",
            "evidence": [
                {
                    "id": "0090126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55028-1",
            "uniprot_ac": "O55028",
            "uniprot_id": "BCKD_MOUSE",
            "refseq_ac": "NP_033869",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain alpha-ketoacid dehydrogenase kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.4",
                    "type": "synonym"
                },
                {
                    "name": "BCKD-kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDHKIN",
                    "type": "synonym"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase precursor",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdk",
                    "type": "recommended"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "Bckdk",
                    "type": "synonym"
                }
            ],
            "record_id": "O55028-1",
            "evidence": [
                {
                    "id": "0090126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14874-1",
            "uniprot_ac": "O14874",
            "uniprot_id": "BCKD_HUMAN",
            "refseq_ac": "NP_001116429",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain alpha-ketoacid dehydrogenase kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.4",
                    "type": "synonym"
                },
                {
                    "name": "BCKD-kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDHKIN",
                    "type": "synonym"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched chain alpha-ketoacid dehydrogenase kinase",
                    "type": "synonym"
                },
                {
                    "name": "branched chain ketoacid dehydrogenase kinase",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase isoform b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCKDK",
                    "type": "recommended"
                },
                {
                    "name": "BCKDKD",
                    "type": "synonym"
                },
                {
                    "name": "BCKDK",
                    "type": "synonym"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                }
            ],
            "record_id": "O14874-1",
            "evidence": [
                {
                    "id": "614923",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614923"
                },
                {
                    "id": "0090126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53170-1",
            "uniprot_ac": "P53170",
            "uniprot_id": "PDK2_YEAST",
            "refseq_ac": "NP_011456",
            "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": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.2",
                    "type": "synonym"
                },
                {
                    "name": "PDC kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "PDK 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase of PDH protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase complex kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "[Pyruvate dehydrogenase [lipoamide]] kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase PKP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PKP2",
                    "type": "recommended"
                },
                {
                    "name": "PKP2",
                    "type": "synonym"
                }
            ],
            "record_id": "P53170-1",
            "evidence": [
                {
                    "id": "0090126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40530-1",
            "uniprot_ac": "P40530",
            "uniprot_id": "PDK1_YEAST",
            "refseq_ac": "NP_012222",
            "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": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.2",
                    "type": "synonym"
                },
                {
                    "name": "PDC kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "PDK 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase of PDH protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase complex kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "[Pyruvate dehydrogenase [lipoamide]] kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase PKP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PKP1",
                    "type": "recommended"
                },
                {
                    "name": "PKP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40530-1",
            "evidence": [
                {
                    "id": "0090126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00972-1",
            "uniprot_ac": "Q00972",
            "uniprot_id": "BCKD_RAT",
            "refseq_ac": "NP_062117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain alpha-ketoacid dehydrogenase kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.4",
                    "type": "synonym"
                },
                {
                    "name": "BCKD-kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDHKIN",
                    "type": "synonym"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase precursor",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bckdk",
                    "type": "recommended"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "Bckdk",
                    "type": "synonym"
                },
                {
                    "name": "Kat8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00972-1",
            "evidence": [
                {
                    "id": "0090126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08123-1",
            "uniprot_ac": "P08123",
            "uniprot_id": "CO1A2_HUMAN",
            "refseq_ac": "NP_000080",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2 type I procollagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2(I) procollagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2(I)-collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen I, alpha-2 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen of skin, tendon and bone, alpha-2 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "type I procollagen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL1A2",
                    "type": "recommended"
                },
                {
                    "name": "COL1A2",
                    "type": "synonym"
                },
                {
                    "name": "EDSARTH2",
                    "type": "synonym"
                },
                {
                    "name": "EDSCV",
                    "type": "synonym"
                },
                {
                    "name": "OI4",
                    "type": "synonym"
                }
            ],
            "record_id": "P08123-1",
            "evidence": [
                {
                    "id": "0090126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090126"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090126"
}