{
    "disease_id": "DOID:0050715", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "cblC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "methylmalonic acidemia and homocystinuria, cblC type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "cobalamin C deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "cblC methylmalonic acidemia and homocystinuria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "methylmalonic aciduria and homocystinuria cblC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "cobalamin C defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "MAHCC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "methylmalonic aciduria and homocystinuria, cblC type, digenic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "methylmalonic aciduria and homocystinuria, Vitamin B12-responsive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "cblC defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "methylmalonic aciduria and homocystinuria, cblC type; MAHCC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "methylmalonic acidemia and homocystinuria cblC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "cobalamin locus c variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "cobalamin c disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "cblC - cobalamin locus c"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "methylmalonic aciduria and homocystinuria, cblC type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "methylmalonic acidemia with homocystinuria type cblC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "methylmalonic aciduria with homocystinuria, type cblC"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010184", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010184", 
            "name": "methylmalonic acidemia with homocystinuria, type cblC"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050715", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050715", 
            "name": "Cobalamin C deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/277400", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:277400", 
            "name": "Methylmalonic aciduria and homocystinuria, cblC type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050715", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050715", 
        "name": "methylmalonic aciduria and homocystinuria type cblC"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/277400", 
            "id": "277400", 
            "database": "MIM"
        }
    ]
}