{
    "disease_id": "DOID:0111814", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010657", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010657", 
            "name": "methylmalonic acidemia with homocystinuria, type cblX"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010657", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010657", 
            "name": "methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010657", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010657", 
            "name": "methylmalonic aciduria with homocystinuria, type cblX"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010657", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010657", 
            "name": "intellectual disability, X-linked 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010657", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010657", 
            "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010657", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010657", 
            "name": "methylmalonic acidemia and homocysteinemia type cblX"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010657", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010657", 
            "name": "mental retardation, X-linked 3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111814", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111814", 
            "name": "mental retardation, X-linked 3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111814", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111814", 
            "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111814", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111814", 
            "name": "methylmalonic aciduria with homocystinuria, type cblX"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111814", 
        "description": "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in HCFC1 on chromosome Xq28.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111814", 
        "name": "methylmalonic acidemia and homocysteinemia cblX type"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111814#disease-associations", 
            "id": "0111814", 
            "database": "Alliance of Genome Resources"
        }
    ]
}