{
    "disease_id": "DOID:0080561",
    "recommended_name": {
        "id": "DOID:0080561",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080561",
        "name": "congenital disorder of glycosylation Ii",
        "description": "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080561",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080561",
            "name": "congenital disorder of glycosylation 1i",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "ALG2-congenital disorder of glycosylation",
            "description": "A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive."
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "ALG2-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "ALG2-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "CDG 1I",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "CDG Ii",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "CDG syndrome type Ii",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "CDG1I",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "carbohydrate deficient glycoprotein syndrome type Ii",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "congenital disorder of glycosylation type 1i",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "congenital disorder of glycosylation type Ii",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "congenital disorder of glycosylation, type Ii",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "mannosyltransferase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "ALG2-CDG (CDG-II)",
            "description": ""
        },
        {
            "id": "MONDO:0011933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011933",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1I",
            "description": ""
        },
        {
            "id": "MIM:607906",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607906",
            "name": "Congenital disorder of glycosylation 1I",
            "description": "Congenital disorder of glycosylation 1I"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080561"
    ],
    "unlinked_id_list": []
}