{
    "disease_id": "DOID:0050571", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "MGAT2-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "CDG-IIa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "carbohydrate deficient glycoprotein syndrome type IIa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type II"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "mental retardation, Growth retardation, prominent columella, and open mouth"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "CDG 2A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "CDG IIa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "congenital disorder of glycosylation, type IIa; CDG2A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "congenital disorder of glycosylation type IIa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "carbohydrate-deficient glycoprotein syndrome type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "CDG syndrome type IIa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "Alkuraya syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "CDG2A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "congenital disorder of glycosylation type 2a"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "congenital disorder of glycosylation, type IIa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "MGAT2-CDG (CDG-IIa)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "CDGS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "N-acetylglucosaminyltransferase 2 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type II, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008908", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008908", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050571", 
        "description": "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050571", 
        "name": "congenital disorder of glycosylation type II"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0050571#disease-associations", 
            "id": "0050571", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
