{
    "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": []
}