{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013341", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013341", 
            "name": "methylmalonic aciduria due to transcobalamin receptor defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013341", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013341", 
            "name": "methylmalonic acidemia, TCb1R type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013341", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013341", 
            "name": "methylmalonic acidemia, TCbIR type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013341", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013341", 
            "name": "CD320 methylmalonic acidemia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013341", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013341", 
            "name": "methylmalonic acidemia, Tcblr type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013341", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013341", 
            "name": "methylmalonic aciduria, transient, due to transcobalamin receptor defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013341", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013341", 
            "name": "methylmalonic acidemia caused by mutation in CD320"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060741", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060741", 
            "name": "methylmalonic acidemia, TCblR type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060741", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060741", 
            "name": "methylmalonic aciduria due to transcobalamin receptor defect"
        }, 
        {
            "url": "https://www.omim.org/entry/613646", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:613646", 
            "name": "Methylmalonic aciduria, transient, due to transcobalamin receptor defect"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060741", 
        "description": "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060741", 
        "name": "methylmalonic acidemia due to transcobalamin receptor defect"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/613646", 
            "id": "613646", 
            "database": "MIM"
        }
    ]
}