{
    "disease_id": "DOID:0080558", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "MPDU1-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "congenital disorder of glycosylation, type If"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "congenital disorder of glycosylation type 1f"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "carbohydrate deficient glycoprotein syndrome type If"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "CDG-If"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "CDG1F"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "MPDU1-CDG (CDG-If)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "CDG If"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "CDG syndrome type If"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "congenital disorder of glycosylation type If"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "CDGIf"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "carbohydrate-deficient glycoprotein syndrome type 1F"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "CDG 1F"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012211", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012211", 
            "name": "congenital disorder of glycosylation, type If; CDG1F"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080558", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080558", 
            "name": "congenital disorder of glycosylation 1f"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080558", 
        "description": "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080558", 
        "name": "congenital disorder of glycosylation If"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080558#disease-associations", 
            "id": "0080558", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
