{
    "disease_id": "DOID:0050571",
    "recommended_name": {
        "id": "DOID:0050571",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050571",
        "name": "congenital disorder of glycosylation type II",
        "description": "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain."
    },
    "synonyms": [
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "MGAT2-congenital disorder of glycosylation",
            "description": "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)."
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "CDG syndrome type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "CDG-IIa",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "CDG2A",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "MGAT2-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "N-acetylglucosaminyltransferase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "carbohydrate deficient glycoprotein syndrome type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "congenital disorder of glycosylation type 2a",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "congenital disorder of glycosylation type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "CDG 2A",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "CDGS2",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "MGAT2-CDG (CDG-IIa)",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "carbohydrate-deficient glycoprotein syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "congenital disorder of glycosylation, type IIa",
            "description": ""
        },
        {
            "id": "MONDO:0008908",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008908",
            "name": "mental retardation, Growth retardation, prominent columella, and open mouth",
            "description": ""
        },
        {
            "id": "MIM:212066",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212066",
            "name": "Congenital disorder of glycosylation 2A",
            "description": "Congenital disorder of glycosylation 2A"
        }
    ],
    "children": [
        {
            "id": "DOID:0051047",
            "label": "congenital disorder of glycosylation type IIbb",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051048",
            "label": "congenital disorder of glycosylation type IIr",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051049",
            "label": "congenital disorder of glycosylation type IIt",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051050",
            "label": "congenital disorder of glycosylation type IIv",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051051",
            "label": "congenital disorder of glycosylation type IIw",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051052",
            "label": "congenital disorder of glycosylation type IIy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051053",
            "label": "congenital disorder of glycosylation type IIz",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070253",
            "label": "congenital disorder of glycosylation type IIa",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070254",
            "label": "congenital disorder of glycosylation type IIb",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070255",
            "label": "congenital disorder of glycosylation type IIc",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070256",
            "label": "congenital disorder of glycosylation type IId",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070257",
            "label": "congenital disorder of glycosylation type IIe",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070258",
            "label": "congenital disorder of glycosylation type IIf",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070259",
            "label": "congenital disorder of glycosylation type IIg",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070260",
            "label": "congenital disorder of glycosylation type IIh",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070261",
            "label": "congenital disorder of glycosylation type IIi",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070262",
            "label": "congenital disorder of glycosylation type IIj",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070263",
            "label": "congenital disorder of glycosylation type IIk",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070264",
            "label": "congenital disorder of glycosylation type IIl",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070265",
            "label": "congenital disorder of glycosylation type IIm",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070266",
            "label": "congenital disorder of glycosylation type IIn",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070267",
            "label": "congenital disorder of glycosylation type IIo",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070268",
            "label": "congenital disorder of glycosylation type IIp",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070269",
            "label": "congenital disorder of glycosylation type IIq",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070262",
        "DOID:0070265",
        "DOID:0070257",
        "DOID:0070256",
        "DOID:0070267",
        "DOID:0051047",
        "DOID:0051053",
        "DOID:0070255",
        "DOID:0051051",
        "DOID:0051049",
        "DOID:0051050",
        "DOID:0070269",
        "DOID:0050571",
        "DOID:0070266",
        "DOID:0070261",
        "DOID:0070264",
        "DOID:0070253",
        "DOID:0070263",
        "DOID:0070258",
        "DOID:0051048",
        "DOID:0051052",
        "DOID:0070254",
        "DOID:0070260",
        "DOID:0070268",
        "DOID:0070259"
    ],
    "unlinked_id_list": []
}