{
    "disease_id": "DOID:0051050",
    "recommended_name": {
        "id": "DOID:0051050",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051050",
        "name": "congenital disorder of glycosylation type IIv",
        "description": "A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0030423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030423",
            "name": "congenital disorder of glycosylation, type 2v",
            "description": ""
        },
        {
            "id": "MONDO:0030423",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030423",
            "name": "CDG2V",
            "description": ""
        },
        {
            "id": "MIM:619493",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619493",
            "name": "Congenital disorder of glycosylation 2V",
            "description": "Congenital disorder of glycosylation 2V"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051050"
    ],
    "unlinked_id_list": []
}