{
    "disease_id": "DOID:0060740",
    "recommended_name": {
        "id": "DOID:0060740",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0060740",
            "name": "methylmalonic aciduria mut type",
            "description": ""
        },
        {
            "id": "DOID:0060740",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060740",
            "name": "vitamin B12-unresponsive methylmalonic aciduria",
            "description": ""
        },
        {
            "id": "DOID:0060740",
            "resource": "Disease Ontology",
            "url": "http://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": "methylmalonic aciduria mut type",
            "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": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "methylmalonic aciduria, mut type",
            "description": ""
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "methylmalonic aciduria, mut(-) type",
            "description": ""
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "methylmalonic aciduria, mut(0) type",
            "description": ""
        },
        {
            "id": "MONDO:0009612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009612",
            "name": "vitamin B12-unresponsive methylmalonic acidemia",
            "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"
        }
    ]
}