{
    "disease_id": "DOID:0051049",
    "recommended_name": {
        "id": "DOID:0051049",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051049",
        "name": "congenital disorder of glycosylation type IIt",
        "description": "A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "MONDO:0030043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030043",
            "name": "congenital disorder of glycosylation, type iit",
            "description": ""
        },
        {
            "id": "MONDO:0030043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030043",
            "name": "CDG2T",
            "description": ""
        },
        {
            "id": "MONDO:0030043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030043",
            "name": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt",
            "description": ""
        },
        {
            "id": "MONDO:0030043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030043",
            "name": "Cdg Iit",
            "description": ""
        },
        {
            "id": "MIM:618885",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618885",
            "name": "Congenital disorder of glycosylation 2T",
            "description": "Congenital disorder of glycosylation 2T"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051049"
    ],
    "unlinked_id_list": []
}