{
    "disease_id": "DOID:0061205",
    "recommended_name": {
        "id": "DOID:0061205",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061205",
        "name": "mild variant of maple syrup urine disease",
        "description": "A maple syrup urine disease characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth that has_material_basis_in homozygous mutation in the PPM1K gene on chromosome 4q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0014057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014057",
            "name": "maple syrup urine disease, mild variant",
            "description": ""
        },
        {
            "id": "MONDO:0014057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014057",
            "name": "maple syrup urine disease, mild variant",
            "description": ""
        },
        {
            "id": "MONDO:0014057",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014057",
            "name": "MSUDMV",
            "description": ""
        },
        {
            "id": "MIM:615135",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615135",
            "name": "Maple syrup urine disease, mild variant",
            "description": "Maple syrup urine disease, mild variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061205"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061205",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061205",
            "categories": []
        },
        {
            "id": "MONDO:0014057",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014057",
            "categories": []
        },
        {
            "id": "MIM:615135",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615135",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5Q7-1",
            "uniprot_ac": "A0ACD6B5Q7",
            "uniprot_id": "A0ACD6B5Q7_DANRE",
            "refseq_ac": "XP_690577",
            "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 phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase Mn(2+)-dependent 1K isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ppm1ka",
                    "type": "recommended"
                },
                {
                    "name": "ppm1ka",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5Q7-1",
            "evidence": [
                {
                    "id": "0061205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1P874-1",
            "uniprot_ac": "A0A8M1P874",
            "uniprot_id": "A0A8M1P874_DANRE",
            "refseq_ac": "NP_001314673",
            "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 phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "pp2cm",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1K (PP2C domain containing)",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase Mn(2+)-dependent 1K",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase, Mg2+/Mn2+ dependent, 1K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ppm1kb",
                    "type": "recommended"
                },
                {
                    "name": "im:6912645",
                    "type": "synonym"
                },
                {
                    "name": "ppm1kb",
                    "type": "synonym"
                },
                {
                    "name": "ppm1k",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113207",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P874-1",
            "evidence": [
                {
                    "id": "0061205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BXN7-1",
            "uniprot_ac": "Q8BXN7",
            "uniprot_id": "PPM1K_MOUSE",
            "refseq_ac": "NP_780732",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase Mn(2+)-dependent 1K",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.52",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH",
                    "type": "synonym"
                },
                {
                    "name": "BDP",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-ketoacid dehydrogenase phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "PP2C-kappa",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase 2C family member",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase 2C isoform kappa",
                    "type": "synonym"
                },
                {
                    "name": "[3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)]-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1K, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2C family member",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase Mn(2+)-dependent 1K precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase Mn(2+)-dependent 1K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppm1k",
                    "type": "recommended"
                },
                {
                    "name": "2900063A19Rik",
                    "type": "synonym"
                },
                {
                    "name": "A930026L03Rik",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH",
                    "type": "synonym"
                },
                {
                    "name": "BDP",
                    "type": "synonym"
                },
                {
                    "name": "PP2C-kappa",
                    "type": "synonym"
                },
                {
                    "name": "PP2Cm",
                    "type": "synonym"
                },
                {
                    "name": "Pp2cm",
                    "type": "synonym"
                },
                {
                    "name": "Ppm1k",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BXN7-1",
            "evidence": [
                {
                    "id": "0061205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N3J5-1",
            "uniprot_ac": "Q8N3J5",
            "uniprot_id": "PPM1K_HUMAN",
            "refseq_ac": "NP_689755",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase Mn(2+)-dependent 1K",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.52",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH",
                    "type": "synonym"
                },
                {
                    "name": "BDP",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-ketoacid dehydrogenase phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "PP2C domain-containing protein phosphatase 1K",
                    "type": "synonym"
                },
                {
                    "name": "PP2C-kappa",
                    "type": "synonym"
                },
                {
                    "name": "PP2C-like mitochondrial protein",
                    "type": "synonym"
                },
                {
                    "name": "PP2C-type mitochondrial phosphoprotein phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "PTMP",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase 2C family member",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase 2C isoform kappa",
                    "type": "synonym"
                },
                {
                    "name": "[3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)]-phosphatase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain I+/--ketoacid dehydrogenase phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1K, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2C family member",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2C kappa",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase Mn(2+)-dependent 1K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPM1K",
                    "type": "recommended"
                },
                {
                    "name": "BCKDH",
                    "type": "synonym"
                },
                {
                    "name": "BDP",
                    "type": "synonym"
                },
                {
                    "name": "MSUDMV",
                    "type": "synonym"
                },
                {
                    "name": "PP2CM",
                    "type": "synonym"
                },
                {
                    "name": "PP2Ckappa",
                    "type": "synonym"
                },
                {
                    "name": "PP2Cm",
                    "type": "synonym"
                },
                {
                    "name": "PPM1K",
                    "type": "synonym"
                },
                {
                    "name": "PTMP",
                    "type": "synonym"
                },
                {
                    "name": "UG0882E07",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N3J5-1",
            "evidence": [
                {
                    "id": "615135",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615135"
                },
                {
                    "id": "0061205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25646-1",
            "uniprot_ac": "P25646",
            "uniprot_id": "PDP2_YEAST",
            "refseq_ac": "NP_010003",
            "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]]-phosphatase 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.43",
                    "type": "synonym"
                },
                {
                    "name": "Autophagy-related protein phosphatase 1",
                    "type": "synonym"
                },
                {
                    "name": "PDC phosphatase 2",
                    "type": "synonym"
                },
                {
                    "name": "PDP 2",
                    "type": "synonym"
                },
                {
                    "name": "PP2C-6",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatase two C protein 6",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase 2C homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase of PDH protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Pyruvate dehydrogenase complex phosphatase 2",
                    "type": "synonym"
                },
                {
                    "name": "type 2C protein phosphatase PTC6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTC6",
                    "type": "recommended"
                },
                {
                    "name": "AUP1",
                    "type": "synonym"
                },
                {
                    "name": "PPP2",
                    "type": "synonym"
                },
                {
                    "name": "PTC6",
                    "type": "synonym"
                },
                {
                    "name": "YCR79C",
                    "type": "synonym"
                },
                {
                    "name": "YCR79W",
                    "type": "synonym"
                }
            ],
            "record_id": "P25646-1",
            "evidence": [
                {
                    "id": "0061205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6K136-1",
            "uniprot_ac": "A6K136",
            "uniprot_id": "PPM1K_RAT",
            "refseq_ac": "NP_001101333",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase Mn(2+)-dependent 1K",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.52",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH",
                    "type": "synonym"
                },
                {
                    "name": "BDP",
                    "type": "synonym"
                },
                {
                    "name": "Branched-chain alpha-ketoacid dehydrogenase phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Protein phosphatase 2C family member",
                    "type": "synonym"
                },
                {
                    "name": "[3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)]-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1K (PP2C domain containing)",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1K, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2C family member",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase Mn(2+)-dependent 1K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ppm1k",
                    "type": "recommended"
                },
                {
                    "name": "BCKDH",
                    "type": "synonym"
                },
                {
                    "name": "BDP",
                    "type": "synonym"
                },
                {
                    "name": "Ppm1k",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308501",
                    "type": "synonym"
                }
            ],
            "record_id": "A6K136-1",
            "evidence": [
                {
                    "id": "0061205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061205"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061205"
}