{
    "disease_id": "DOID:0080563",
    "recommended_name": {
        "id": "DOID:0080563",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080563",
        "name": "congenital disorder of glycosylation Ik",
        "description": "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080563",
            "name": "congenital disorder of glycosylation 1k",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "ALG1-congenital disorder of glycosylation",
            "description": "A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3)."
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "ALG1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "ALG1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "CDG syndrome type Ik",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "CDG-Ik",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "CDG1K",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "carbohydrate deficient glycoprotein syndrome type Ik",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "congenital disorder of glycosylation type 1k",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "congenital disorder of glycosylation type Ik",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "mannosyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "ALG1-CDG (CDG-Ik)",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "CDG 1K",
            "description": ""
        },
        {
            "id": "MONDO:0012052",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012052",
            "name": "congenital disorder of glycosylation, type Ik",
            "description": ""
        },
        {
            "id": "MIM:608540",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608540",
            "name": "Congenital disorder of glycosylation 1K",
            "description": "Congenital disorder of glycosylation 1K"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080563"
    ],
    "unlinked_id_list": []
}