{
    "disease_id": "DOID:0050717", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "Vitamin B12 lysosomal release defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "cblF methylmalonic acidemia and homocystinuria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "cobalamin, defect in lysosomal release of"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "lysosomal membrane cobalamin transporter deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "Vitamin B12 storage disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "methylmalonic aciduria due to Vitamin B12-release defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "cobalamin locus f variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "methylmalonic aciduria and homocystinuria, cblF type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "cobalamin F deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "methylmalonic aciduria and homocystinuria, cblF type; MAHCF"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "MAHCF"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "cobalamin F defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "inherited methylmalonic acidemia and homocystinuria"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "methylmalonic acidemia with homocystinuria type cblF"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "methylmalonic acidemia and homocystinuria, cblF type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "cblF defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "methylmalonic aciduria with homocystinuria, type cblF"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010183", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010183", 
            "name": "cobalamin F disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0050717", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0050717", 
            "name": "Cobalamin F deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/277380", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:277380", 
            "name": "Methylmalonic aciduria and homocystinuria, cblF type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050717", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050717", 
        "name": "methylmalonic aciduria and homocystinuria type cblF"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/277380", 
            "id": "277380", 
            "database": "MIM"
        }
    ]
}