{
    "disease_id": "DOID:0080557",
    "recommended_name": {
        "id": "DOID:0080557",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080557",
        "name": "congenital disorder of glycosylation Ie",
        "description": "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080557",
            "name": "congenital disorder of glycosylation 1e",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation type 1E",
            "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common."
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "CDG syndrome type Ie",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "CDG-Ie",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "CDG1E",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "CDGIe",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "DPM1 congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "Dol-P-mannosyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "carbohydrate deficient glycoprotein syndrome type Ie",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation caused by mutation in DPM1",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation type 1e",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation type Ie",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "CDG 1E",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "DPM1-CDG (CDG-Ie)",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0012123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012123",
            "name": "congenital disorder of glycosylation, type Ie",
            "description": ""
        },
        {
            "id": "MIM:608799",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608799",
            "name": "Congenital disorder of glycosylation 1E",
            "description": "Congenital disorder of glycosylation 1E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080557"
    ],
    "unlinked_id_list": []
}