{
    "disease_id": "DOID:0070260",
    "recommended_name": {
        "id": "DOID:0070260",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070260",
        "name": "congenital disorder of glycosylation type IIh",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "CDG IIh",
            "description": ""
        },
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "CDG2H",
            "description": ""
        },
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "COG8-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "Congenital disorder of glycosylation type 2h",
            "description": ""
        },
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIh",
            "description": ""
        },
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "CDGIIh",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "COG8-congenital disorder of glycosylation",
            "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products."
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "CDG syndrome type IIh",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "CDG-IIh",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "CDG2H",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "COG8-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "COG8-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "carbohydrate deficient glycoprotein syndrome type IIh",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "congenital disorder of glycosylation type 2h",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "congenital disorder of glycosylation type IIh",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "COG8-CDG (CDG-IIh)",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "congenital disorder of glycosylation, type IIh",
            "description": ""
        },
        {
            "id": "MIM:611182",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611182",
            "name": "Congenital disorder of glycosylation 2H",
            "description": "Congenital disorder of glycosylation 2H"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070260"
    ],
    "unlinked_id_list": []
}