{
    "disease_id": "DOID:0080553", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014904", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014904", 
            "name": "congenital disorder of glycosylation, type IAA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014904", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014904", 
            "name": "congenital disorder of glycosylation, type IAA; CDG1AA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014904", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014904", 
            "name": "CDG1AA"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080553", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080553", 
            "name": "congenital disorder of glycosylation 1aa"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080553", 
        "description": "A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080553", 
        "name": "congenital disorder of glycosylation Iaa"
    }, 
    "evidence": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014904", 
            "id": "0014904", 
            "database": "MONDO"
        }, 
        {
            "url": "https://www.omim.org/entry/617082", 
            "id": "617082", 
            "database": "MIM"
        }
    ]
}