{
    "disease_id": "DOID:0070258",
    "recommended_name": {
        "id": "DOID:0070258",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070258",
        "name": "congenital disorder of glycosylation type IIf",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35A1 on chromosome 6q15."
    },
    "synonyms": [
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070258",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIf",
            "description": ""
        },
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070258",
            "name": "CDG IIf",
            "description": ""
        },
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070258",
            "name": "CDG2F",
            "description": ""
        },
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070258",
            "name": "CDGIIdf",
            "description": ""
        },
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070258",
            "name": "CMP-sialic acid transporter deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070258",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070258",
            "name": "SLC35A1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "SLC35A1-CDG",
            "description": "SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage."
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "congenital disorder of glycosylation, type IIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "congenital disorder of glycosylation type IIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "CDG syndrome type IIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "congenital disorder of glycosylation, type IIf; CDG2F",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "congenital disorder of glycosylation type 2f",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "CDG2F",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "CDG-IIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "carbohydrate deficient glycoprotein syndrome type IIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "CDG IIf",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "SLC35A1-CDG (CDG-IIf)",
            "description": ""
        },
        {
            "id": "MONDO:0011342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011342",
            "name": "CMP-sialic acid transporter deficiency",
            "description": ""
        },
        {
            "id": "MIM:603585",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603585",
            "name": "Congenital disorder of glycosylation 2F",
            "description": "Congenital disorder of glycosylation 2F"
        }
    ]
}