{
    "disease_id": "DOID:0050715",
    "recommended_name": {
        "id": "DOID:0050715",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050715",
        "name": "methylmalonic aciduria and homocystinuria type cblC",
        "description": "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase."
    },
    "synonyms": [
        {
            "id": "DOID:0050715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050715",
            "name": "Cobalamin C deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050715",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050715",
            "name": "MAHCC",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "methylmalonic aciduria and homocystinuria type cblC",
            "description": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "cblC defect",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "cobalamin C defect",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "cobalamin c disease",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "methylmalonic aciduria and homocystinuria type cblC",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "methylmalonic aciduria with homocystinuria, type cblC",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "MAHCC",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "cblC",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "methylmalonic acidemia and homocystinuria cblC",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "methylmalonic acidemia with homocystinuria type cblC",
            "description": ""
        },
        {
            "id": "MONDO:0010184",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "name": "methylmalonic aciduria and homocystinuria cblC",
            "description": ""
        },
        {
            "id": "MIM:277400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277400",
            "name": "Methylmalonic aciduria and homocystinuria, cblC type",
            "description": "Methylmalonic aciduria and homocystinuria, cblC type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050715"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050715",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050715",
            "categories": []
        },
        {
            "id": "MONDO:0010184",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010184",
            "categories": []
        },
        {
            "id": "MIM:277400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RFU5-1",
            "uniprot_ac": "Q5RFU5",
            "uniprot_id": "MMAC_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyanocobalamin reductase / alkylcobalamin dealkylase",
                    "type": "recommended"
                },
                {
                    "name": "1.16.1.6",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.151",
                    "type": "synonym"
                },
                {
                    "name": "Alkylcobalamin:glutathione S-alkyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "CblC",
                    "type": "synonym"
                },
                {
                    "name": "Cyanocobalamin reductase (cyanide-eliminating)",
                    "type": "synonym"
                },
                {
                    "name": "MMACHC",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonic aciduria and homocystinuria type C protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mmachc",
                    "type": "recommended"
                },
                {
                    "name": "CblC",
                    "type": "synonym"
                },
                {
                    "name": "fc29d04",
                    "type": "synonym"
                },
                {
                    "name": "si:zfos-47c12.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc29d04",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RFU5-1",
            "evidence": [
                {
                    "id": "0050715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AWE1-1",
            "uniprot_ac": "A2AWE1",
            "uniprot_id": "A2AWE1_DANRE",
            "refseq_ac": "NP_001013489",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxiredoxin-1",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.24",
                    "type": "synonym"
                },
                {
                    "name": "peroxiredoxin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prdx1",
                    "type": "recommended"
                },
                {
                    "name": "NKEF-A",
                    "type": "synonym"
                },
                {
                    "name": "hm:zehl0637",
                    "type": "synonym"
                },
                {
                    "name": "prdx1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110343",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AWE1-1",
            "evidence": [
                {
                    "id": "0050715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6TGZ4-1",
            "uniprot_ac": "Q6TGZ4",
            "uniprot_id": "THA11_DANRE",
            "refseq_ac": "NP_998267",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "THAP domain-containing protein 11",
                    "type": "recommended"
                },
                {
                    "name": "THAP domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "thap11",
                    "type": "recommended"
                },
                {
                    "name": "thap11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa14e04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc33b05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65871",
                    "type": "synonym"
                },
                {
                    "name": "zgc:76876",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6TGZ4-1",
            "evidence": [
                {
                    "id": "0050715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CZD0-1",
            "uniprot_ac": "Q9CZD0",
            "uniprot_id": "MMAC_MOUSE",
            "refseq_ac": "NP_080238",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyanocobalamin reductase / alkylcobalamin dealkylase",
                    "type": "recommended"
                },
                {
                    "name": "1.16.1.6",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.151",
                    "type": "synonym"
                },
                {
                    "name": "Alkylcobalamin:glutathione S-alkyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "CblC",
                    "type": "synonym"
                },
                {
                    "name": "Cyanocobalamin reductase (cyanide-eliminating)",
                    "type": "synonym"
                },
                {
                    "name": "MMACHC",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonic aciduria and homocystinuria type C protein",
                    "type": "synonym"
                },
                {
                    "name": "alkylcobalamin:glutathione S-alkyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cyanocobalamin reductase (cyanide-eliminating)",
                    "type": "synonym"
                },
                {
                    "name": "cyanocobalamin reductase / alkylcobalamin dealkylase",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria and homocystinuria type C protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmachc",
                    "type": "recommended"
                },
                {
                    "name": "1810037K07Rik",
                    "type": "synonym"
                },
                {
                    "name": "CblC",
                    "type": "synonym"
                },
                {
                    "name": "Mmachc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZD0-1",
            "evidence": [
                {
                    "id": "0050715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJD0-1",
            "uniprot_ac": "Q9JJD0",
            "uniprot_id": "THA11_MOUSE",
            "refseq_ac": "NP_067488",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "THAP domain-containing protein 11",
                    "type": "recommended"
                },
                {
                    "name": "Ronin",
                    "type": "synonym"
                },
                {
                    "name": "THAP domain-containing protein 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thap11",
                    "type": "recommended"
                },
                {
                    "name": "2810036E22Rik",
                    "type": "synonym"
                },
                {
                    "name": "CTG-B43a",
                    "type": "synonym"
                },
                {
                    "name": "CTG-B45d",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-2032",
                    "type": "synonym"
                },
                {
                    "name": "Ronin",
                    "type": "synonym"
                },
                {
                    "name": "Thap11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJD0-1",
            "evidence": [
                {
                    "id": "0050715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35700-1",
            "uniprot_ac": "P35700",
            "uniprot_id": "PRDX1_MOUSE",
            "refseq_ac": "NP_035164",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxiredoxin-1",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.24",
                    "type": "synonym"
                },
                {
                    "name": "Macrophage 23 kDa stress protein",
                    "type": "synonym"
                },
                {
                    "name": "OSF-3",
                    "type": "synonym"
                },
                {
                    "name": "Osteoblast-specific factor 3",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin peroxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin-dependent peroxide reductase 2",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin-dependent peroxiredoxin 1",
                    "type": "synonym"
                },
                {
                    "name": "Trx dependent peroxide reductase 2",
                    "type": "synonym"
                },
                {
                    "name": "macrophage 23 Kd stress protein",
                    "type": "synonym"
                },
                {
                    "name": "macrophage 23 kDa stress protein",
                    "type": "synonym"
                },
                {
                    "name": "macrophage 23kDa stress protein",
                    "type": "synonym"
                },
                {
                    "name": "macrophase stress protein 22kDa",
                    "type": "synonym"
                },
                {
                    "name": "macrophase stress protein 23 kd",
                    "type": "synonym"
                },
                {
                    "name": "osteoblast-specific factor 3",
                    "type": "synonym"
                },
                {
                    "name": "peroxiredoxin-1",
                    "type": "synonym"
                },
                {
                    "name": "proliferation-associated gene A",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin peroxidase 2",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-dependent peroxide reductase 2",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin-dependent peroxiredoxin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prdx1",
                    "type": "recommended"
                },
                {
                    "name": "MSP23",
                    "type": "synonym"
                },
                {
                    "name": "Msp23",
                    "type": "synonym"
                },
                {
                    "name": "NkefA",
                    "type": "synonym"
                },
                {
                    "name": "OSF-3",
                    "type": "synonym"
                },
                {
                    "name": "OSF3",
                    "type": "synonym"
                },
                {
                    "name": "PAG",
                    "type": "synonym"
                },
                {
                    "name": "Paga",
                    "type": "synonym"
                },
                {
                    "name": "Prdx1",
                    "type": "synonym"
                },
                {
                    "name": "PrdxI",
                    "type": "synonym"
                },
                {
                    "name": "PrxI",
                    "type": "synonym"
                },
                {
                    "name": "TDX2",
                    "type": "synonym"
                },
                {
                    "name": "TPxA",
                    "type": "synonym"
                },
                {
                    "name": "Tdpx2",
                    "type": "synonym"
                },
                {
                    "name": "prx1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35700-1",
            "evidence": [
                {
                    "id": "0050715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y4U1-1",
            "uniprot_ac": "Q9Y4U1",
            "uniprot_id": "MMAC_HUMAN",
            "refseq_ac": "NP_001317469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyanocobalamin reductase / alkylcobalamin dealkylase",
                    "type": "recommended"
                },
                {
                    "name": "1.16.1.6",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.151",
                    "type": "synonym"
                },
                {
                    "name": "Alkylcobalamin:glutathione S-alkyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "CblC",
                    "type": "synonym"
                },
                {
                    "name": "Cyanocobalamin reductase (cyanide-eliminating)",
                    "type": "synonym"
                },
                {
                    "name": "MMACHC",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonic aciduria and homocystinuria type C protein",
                    "type": "synonym"
                },
                {
                    "name": "alkylcobalamin:glutathione S-alkyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "cyanocobalamin reductase (cyanide-eliminating)",
                    "type": "synonym"
                },
                {
                    "name": "cyanocobalamin reductase / alkylcobalamin dealkylase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cyanocobalamin reductase / alkylcobalamin dealkylase",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonic aciduria and homocystinuria type C protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMACHC",
                    "type": "recommended"
                },
                {
                    "name": "MMACHC",
                    "type": "synonym"
                },
                {
                    "name": "cblC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y4U1-1",
            "evidence": [
                {
                    "id": "277400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/277400"
                },
                {
                    "id": "0050715",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050715"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34760-1",
            "uniprot_ac": "P34760",
            "uniprot_id": "TSA1_YEAST",
            "refseq_ac": "NP_013684",
            "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": "Peroxiredoxin TSA1",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.24",
                    "type": "synonym"
                },
                {
                    "name": "Cytoplasmic thiol peroxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "PRP",
                    "type": "synonym"
                },
                {
                    "name": "Protector protein",
                    "type": "synonym"
                },
                {
                    "name": "Prx",
                    "type": "synonym"
                },
                {
                    "name": "TPx type Ia",
                    "type": "synonym"
                },
                {
                    "name": "Thiol-specific antioxidant protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin peroxidase type Ia",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin-dependent peroxide reductase",
                    "type": "synonym"
                },
                {
                    "name": "Thioredoxin-dependent peroxiredoxin TSA1",
                    "type": "synonym"
                },
                {
                    "name": "cTPx 1",
                    "type": "synonym"
                },
                {
                    "name": "thioredoxin peroxidase TSA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSA1",
                    "type": "recommended"
                },
                {
                    "name": "TPX1",
                    "type": "synonym"
                },
                {
                    "name": "TSA1",
                    "type": "synonym"
                },
                {
                    "name": "TSA",
                    "type": "synonym"
                },
                {
                    "name": "ZRG14",
                    "type": "synonym"
                }
            ],
            "record_id": "P34760-1",
            "evidence": [
                {
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}