{
    "disease_id": "DOID:0080569",
    "recommended_name": {
        "id": "DOID:0080569",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080569",
        "name": "congenital disorder of glycosylation Ir",
        "description": "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0080569",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080569",
            "name": "congenital disorder of glycosylation 1r",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "DDOST-congenital disorder of glycosylation",
            "description": "DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1)."
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "CDG syndrome type Ir",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "CDG-Ir",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "CDG1R",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "DDOST-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "DDOST-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "carbohydrate deficient glycoprotein syndrome type Ir",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "congenital disorder of glycosylation type 1r",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "congenital disorder of glycosylation type Ir",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "DDOST-CDG (CDG-Ir)",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "carbohydrate deficient glycoprotein syndrome type",
            "description": ""
        },
        {
            "id": "MONDO:0013789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013789",
            "name": "congenital disorder of glycosylation, type Ir",
            "description": ""
        },
        {
            "id": "MIM:614507",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614507",
            "name": "Congenital disorder of glycosylation 1R",
            "description": "Congenital disorder of glycosylation 1R"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080569"
    ],
    "unlinked_id_list": []
}