{
    "disease_id": "DOID:0070257",
    "recommended_name": {
        "id": "DOID:0070257",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070257",
        "name": "congenital disorder of glycosylation type IIe",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070257",
            "name": "CDG IIe",
            "description": ""
        },
        {
            "id": "DOID:0070257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070257",
            "name": "CDG syndrome type IIe",
            "description": ""
        },
        {
            "id": "DOID:0070257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070257",
            "name": "CDG2E",
            "description": ""
        },
        {
            "id": "DOID:0070257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070257",
            "name": "COG7-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070257",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIe",
            "description": ""
        },
        {
            "id": "DOID:0070257",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070257",
            "name": "CDGIIe",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "COG7-congenital disorder of glycosylation",
            "description": "COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex."
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "CDG syndrome type IIe",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "CDG-IIe",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "CDG2E",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "COG7-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "COG7-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "carbohydrate deficient glycoprotein syndrome type IIe",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "congenital disorder of glycosylation type 2e",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "congenital disorder of glycosylation type IIe",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "CDG 2E",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "COG7-CDG (CDG-IIe)",
            "description": ""
        },
        {
            "id": "MONDO:0012118",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012118",
            "name": "congenital disorder of glycosylation, type IIe",
            "description": ""
        },
        {
            "id": "MIM:608779",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608779",
            "name": "Congenital disorder of glycosylation 2E",
            "description": "Congenital disorder of glycosylation 2E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070257"
    ],
    "unlinked_id_list": []
}