{
    "disease_id": "DOID:0080558",
    "recommended_name": {
        "id": "DOID:0080558",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080558",
        "name": "congenital disorder of glycosylation If",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080558",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080558",
            "name": "congenital disorder of glycosylation 1f",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "MPDU1-CDG",
            "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies."
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "congenital disorder of glycosylation, type If",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "congenital disorder of glycosylation type 1f",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "carbohydrate deficient glycoprotein syndrome type If",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDG-If",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDG1F",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "MPDU1-CDG (CDG-If)",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDG If",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDG syndrome type If",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "congenital disorder of glycosylation type If",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDGIf",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDG 1F",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "congenital disorder of glycosylation, type If; CDG1F",
            "description": ""
        },
        {
            "id": "MIM:609180",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609180",
            "name": "Congenital disorder of glycosylation 1F",
            "description": "Congenital disorder of glycosylation 1F"
        }
    ]
}