{
    "disease_id": "DOID:0070262",
    "recommended_name": {
        "id": "DOID:0070262",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070262",
        "name": "congenital disorder of glycosylation type IIj",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "CDG IIj",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "CDG syndrome type IIj",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "CDG2J",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "COG4-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "Congenital disorder of glycosylation type 2j",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIj",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "CDGIIj",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "COG4-congenital disorder of glycosylation",
            "description": "COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia."
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "CDG syndrome type IIj",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "CDG-IIj",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "CDG2J",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "COG4-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "COG4-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "carbohydrate deficient glycoprotein syndrome type IIj",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "congenital disorder of glycosylation type 2j",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "congenital disorder of glycosylation type IIj",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "COG4-CDG (CDG-IIj)",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "congenital disorder of glycosylation, type IIj",
            "description": ""
        },
        {
            "id": "MIM:613489",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613489",
            "name": "Congenital disorder of glycosylation 2J",
            "description": "Congenital disorder of glycosylation 2J"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070262"
    ],
    "unlinked_id_list": []
}