{
    "disease_id": "DOID:0070254",
    "recommended_name": {
        "id": "DOID:0070254",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070254",
        "name": "congenital disorder of glycosylation type IIb",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070254",
            "name": "CDG IIb",
            "description": ""
        },
        {
            "id": "DOID:0070254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070254",
            "name": "CDG2B",
            "description": ""
        },
        {
            "id": "DOID:0070254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070254",
            "name": "CDGIIb",
            "description": ""
        },
        {
            "id": "DOID:0070254",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070254",
            "name": "glucosidase I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "MOGS-congenital disorder of glycosylation",
            "description": "MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1)."
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "CDG syndrome type IIb",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "CDG-IIb",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "CDG2B",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "MOGS-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "MOGS-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "carbohydrate deficient glycoprotein syndrome type IIb",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "congenital disorder of glycosylation type 2b",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "congenital disorder of glycosylation type IIb",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "glucosidase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "CDG 2B",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "GCS1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "MOGS-CDG (CDG-IIb)",
            "description": ""
        },
        {
            "id": "MONDO:0011629",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011629",
            "name": "congenital disorder of glycosylation, type IIb",
            "description": ""
        },
        {
            "id": "MIM:606056",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606056",
            "name": "Type IIb congenital disorder of glycosylation",
            "description": "Type IIb congenital disorder of glycosylation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070254"
    ],
    "unlinked_id_list": []
}