{
    "disease_id": "DOID:0060740",
    "recommended_name": {
        "id": "DOID:0060740",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060740",
        "name": "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency",
        "description": "A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060740",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060740",
            "name": "methylmalonic aciduria mut type",
            "description": ""
        },
        {
            "id": "DOID:0060740",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060740",
            "name": "vitamin B12-unresponsive methylmalonic aciduria",
            "description": ""
        },
        {
            "id": "DOID:0060740",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060740",
            "name": "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency",
            "description": "Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-."
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "methylmalonyl-CoA mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "methylmalonyl-Coenzyme A mutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "vitamin B12-unresponsive methylmalonic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "MCM deficiency",
            "description": ""
        },
        {
            "id": "MIM:251000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251000",
            "name": "Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency",
            "description": "Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060740"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060740",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060740",
            "categories": []
        },
        {
            "id": "MONDO:0009612",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "categories": []
        },
        {
            "id": "MIM:251000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P16332-1",
            "uniprot_ac": "P16332",
            "uniprot_id": "MUTA_MOUSE",
            "refseq_ac": "NP_032676",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylmalonyl-CoA mutase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.2",
                    "type": "synonym"
                },
                {
                    "name": "MCM",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonyl-CoA isomerase",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA isomerase",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmut",
                    "type": "recommended"
                },
                {
                    "name": "D230010K02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mcm",
                    "type": "synonym"
                },
                {
                    "name": "Mmut",
                    "type": "synonym"
                },
                {
                    "name": "Mut",
                    "type": "synonym"
                }
            ],
            "record_id": "P16332-1",
            "evidence": [
                {
                    "id": "0060740",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060740"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22033-1",
            "uniprot_ac": "P22033",
            "uniprot_id": "MUTA_HUMAN",
            "refseq_ac": "NP_000246",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylmalonyl-CoA mutase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.2",
                    "type": "synonym"
                },
                {
                    "name": "MCM",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonyl-CoA isomerase",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl Coenzyme A mutase",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA isomerase",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase c.*192delA",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase c.*51C>G",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase variant c.1495G>A",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase variant c.2011A>G",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase variant c.2150G>T",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase variant c.322C>T",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase variant c.613_615delGAA",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase variant c.636G>A",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase variant c.643G>A",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "methylmalonyl-CoA mutase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mutant methylmalonyl CoA mutase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMUT",
                    "type": "recommended"
                },
                {
                    "name": "MCM",
                    "type": "synonym"
                },
                {
                    "name": "MMUT",
                    "type": "synonym"
                },
                {
                    "name": "MUT",
                    "type": "synonym"
                }
            ],
            "record_id": "P22033-1",
            "evidence": [
                {
                    "id": "251000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/251000"
                },
                {
                    "id": "0060740",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060740"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZKG1-1",
            "uniprot_ac": "D3ZKG1",
            "uniprot_id": "D3ZKG1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylmalonyl-CoA mutase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "5.4.99.2",
                    "type": "synonym"
                },
                {
                    "name": "Methylmalonyl-CoA isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mmut",
                    "type": "recommended"
                },
                {
                    "name": "LOC100361295",
                    "type": "synonym"
                },
                {
                    "name": "Mut",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZKG1-1",
            "evidence": [
                {
                    "id": "0060740",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060740"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060740"
}