{
    "disease_id": "DOID:0060950",
    "recommended_name": {
        "id": "DOID:0060950",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060950",
        "name": "hypervalinemia and hyperleucine-isoleucinemia",
        "description": "An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060950",
            "name": "branched-chain aminotransferase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "name": "hypervalinemia and hyperleucine-isoleucinemia",
            "description": "Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective -keto acids."
        },
        {
            "id": "MONDO:0100058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "name": "HVLI",
            "description": ""
        },
        {
            "id": "MONDO:0100058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "name": "branched-chain aminotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0100058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "name": "hypervalinemia and hyperleucine-isoleucinemia",
            "description": ""
        },
        {
            "id": "MONDO:0100058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "name": "hypervalinemia or hyperleucine-isoleucinemia",
            "description": ""
        },
        {
            "id": "MIM:618850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618850",
            "name": "Hypervalinemia and hyperleucine-isoleucinemia",
            "description": "Hypervalinemia and hyperleucine-isoleucinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060950"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060950",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060950",
            "categories": []
        },
        {
            "id": "MONDO:0100058",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100058",
            "categories": []
        },
        {
            "id": "MIM:618850",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618850",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QFU8-1",
            "uniprot_ac": "E9QFU8",
            "uniprot_id": "E9QFU8_DANRE",
            "refseq_ac": "NP_001296456",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain-amino-acid aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.42",
                    "type": "synonym"
                },
                {
                    "name": "branched chain aminotransferase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain-amino-acid aminotransferase, mitochondrial isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bcat2",
                    "type": "recommended"
                },
                {
                    "name": "bcat2",
                    "type": "synonym"
                },
                {
                    "name": "fb37h12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb37h12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91919",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QFU8-1",
            "evidence": [
                {
                    "id": "0060950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35855-1",
            "uniprot_ac": "O35855",
            "uniprot_id": "BCAT2_MOUSE",
            "refseq_ac": "NP_033867",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain-amino-acid aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.42",
                    "type": "synonym"
                },
                {
                    "name": "BCAT(m)",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain-amino-acid aminotransferase, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain-amino-acid aminotransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcat2",
                    "type": "recommended"
                },
                {
                    "name": "Bcat(m)",
                    "type": "synonym"
                },
                {
                    "name": "Bcat-2",
                    "type": "synonym"
                },
                {
                    "name": "Bcat2",
                    "type": "synonym"
                },
                {
                    "name": "Bcatm",
                    "type": "synonym"
                },
                {
                    "name": "Eca40",
                    "type": "synonym"
                }
            ],
            "record_id": "O35855-1",
            "evidence": [
                {
                    "id": "0060950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15382-1",
            "uniprot_ac": "O15382",
            "uniprot_id": "BCAT2_HUMAN",
            "refseq_ac": "NP_001158245",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain-amino-acid aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.42",
                    "type": "synonym"
                },
                {
                    "name": "BCAT(m)",
                    "type": "synonym"
                },
                {
                    "name": "PP18",
                    "type": "synonym"
                },
                {
                    "name": "Placental protein 18",
                    "type": "synonym"
                },
                {
                    "name": "branched chain amino-acid transaminase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched chain aminotransferase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain-amino-acid aminotransferase, mitochondrial isoform b",
                    "type": "synonym"
                },
                {
                    "name": "placental protein 18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCAT2",
                    "type": "recommended"
                },
                {
                    "name": "BCAM",
                    "type": "synonym"
                },
                {
                    "name": "BCAT2",
                    "type": "synonym"
                },
                {
                    "name": "BCATM",
                    "type": "synonym"
                },
                {
                    "name": "BCT2",
                    "type": "synonym"
                },
                {
                    "name": "ECA40",
                    "type": "synonym"
                },
                {
                    "name": "HVLI",
                    "type": "synonym"
                },
                {
                    "name": "PP18",
                    "type": "synonym"
                }
            ],
            "record_id": "O15382-1",
            "evidence": [
                {
                    "id": "618850",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618850"
                },
                {
                    "id": "0060950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47176-1",
            "uniprot_ac": "P47176",
            "uniprot_id": "BCA2_YEAST",
            "refseq_ac": "NP_012682",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain-amino-acid aminotransferase, cytosolic",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.42",
                    "type": "synonym"
                },
                {
                    "name": "BCAT",
                    "type": "synonym"
                },
                {
                    "name": "Protein TWT2",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain-amino-acid transaminase BAT2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BAT2",
                    "type": "recommended"
                },
                {
                    "name": "BAT2",
                    "type": "synonym"
                },
                {
                    "name": "ECA40",
                    "type": "synonym"
                },
                {
                    "name": "J2209",
                    "type": "synonym"
                },
                {
                    "name": "TWT2",
                    "type": "synonym"
                }
            ],
            "record_id": "P47176-1",
            "evidence": [
                {
                    "id": "0060950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38891-1",
            "uniprot_ac": "P38891",
            "uniprot_id": "BCA1_YEAST",
            "refseq_ac": "NP_012078",
            "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": "Branched-chain-amino-acid aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.42",
                    "type": "synonym"
                },
                {
                    "name": "BCAT",
                    "type": "synonym"
                },
                {
                    "name": "Protein ECA39",
                    "type": "synonym"
                },
                {
                    "name": "Protein TWT1",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain-amino-acid transaminase BAT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BAT1",
                    "type": "recommended"
                },
                {
                    "name": "BAT1",
                    "type": "synonym"
                },
                {
                    "name": "ECA39",
                    "type": "synonym"
                },
                {
                    "name": "TWT1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38891-1",
            "evidence": [
                {
                    "id": "0060950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35854-1",
            "uniprot_ac": "O35854",
            "uniprot_id": "BCAT2_RAT",
            "refseq_ac": "NP_071795",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain-amino-acid aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.42",
                    "type": "synonym"
                },
                {
                    "name": "BCAT(m)",
                    "type": "synonym"
                },
                {
                    "name": "branched chain amino acid transaminase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched chain aminotransferase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain-amino-acid aminotransferase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain-amino-acid aminotransferase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "heart branched chain aminotransferase precursor encoding mitochondrial protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcat2",
                    "type": "recommended"
                },
                {
                    "name": "BCT2",
                    "type": "synonym"
                },
                {
                    "name": "Bcat2",
                    "type": "synonym"
                },
                {
                    "name": "Bcatm",
                    "type": "synonym"
                },
                {
                    "name": "Eca40",
                    "type": "synonym"
                },
                {
                    "name": "mBcat",
                    "type": "synonym"
                }
            ],
            "record_id": "O35854-1",
            "evidence": [
                {
                    "id": "0060950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYD5-1",
            "uniprot_ac": "Q9VYD5",
            "uniprot_id": "Q9VYD5_DROME",
            "refseq_ac": "NP_572884",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Branched-chain-amino-acid aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.42",
                    "type": "synonym"
                },
                {
                    "name": "Bcat-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG1673-PA",
                    "type": "synonym"
                },
                {
                    "name": "branched chain amino acid transaminase",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain amino acid aminotransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcat",
                    "type": "recommended"
                },
                {
                    "name": "BCAT1",
                    "type": "synonym"
                },
                {
                    "name": "BCAT",
                    "type": "synonym"
                },
                {
                    "name": "Bcat",
                    "type": "synonym"
                },
                {
                    "name": "CG1673",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1673",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1673",
                    "type": "synonym"
                },
                {
                    "name": "bcat",
                    "type": "synonym"
                },
                {
                    "name": "cg1673",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYD5-1",
            "evidence": [
                {
                    "id": "0060950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060950"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060950"
}