{
    "disease_id": "DOID:0050717",
    "recommended_name": {
        "id": "DOID:0050717",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050717",
        "name": "methylmalonic aciduria and homocystinuria type cblF",
        "description": "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13."
    },
    "synonyms": [
        {
            "id": "DOID:0050717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050717",
            "name": "Cobalamin F deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050717",
            "name": "MAHCF",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "methylmalonic aciduria and homocystinuria type cblF",
            "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. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "cblF defect",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "cobalamin F defect",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "inherited methylmalonic acidemia and homocystinuria",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "lysosomal membrane cobalamin transporter deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "methylmalonic aciduria and homocystinuria type cblF",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "methylmalonic aciduria with homocystinuria, type cblF",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "MAHCF",
            "description": ""
        },
        {
            "id": "MIM:277380",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277380",
            "name": "Methylmalonic aciduria and homocystinuria, cblF type",
            "description": "Methylmalonic aciduria and homocystinuria, cblF type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050717"
    ],
    "unlinked_id_list": []
}