{
    "disease_id": "DOID:0051053",
    "recommended_name": {
        "id": "DOID:0051053",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0051053",
        "name": "congenital disorder of glycosylation type IIz",
        "description": "A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0859357",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859357",
            "name": "congenital disorder of glycosylation, type IIz",
            "description": ""
        },
        {
            "id": "MIM:620201",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620201",
            "name": "Congenital disorder of glycosylation 2Z",
            "description": "Congenital disorder of glycosylation 2Z"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051053"
    ],
    "unlinked_id_list": []
}