{
    "disease_id": "DOID:0080555",
    "recommended_name": {
        "id": "DOID:0080555",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080555",
        "name": "congenital disorder of glycosylation Ic",
        "description": "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "DOID:0080555",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080555",
            "name": "congenital disorder of glycosylation 1c",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "ALG6-congenital disorder of glycosylation 1C",
            "description": "A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3)."
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "ALG6 congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "ALG6-CDG (CDG-Ic)",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "ALG6-CDG1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "ALG6-congenital disorder of glycosylation 1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDG syndrome type Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDG-Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDG1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDGIc",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "carbohydrate deficient glycoprotein syndrome type Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "congenital disorder of glycosylation caused by mutation in ALG6",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "congenital disorder of glycosylation type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "congenital disorder of glycosylation type Ic",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "glucosyltransferase 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDG 1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "CDGS5 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "carbohydrate-deficient glycoprotein syndrome, type V (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0011291",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011291",
            "name": "congenital disorder of glycosylation, type Ic",
            "description": ""
        },
        {
            "id": "MIM:603147",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603147",
            "name": "Congenital disorder of glycosylation 1C",
            "description": "Congenital disorder of glycosylation 1C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080555"
    ],
    "unlinked_id_list": []
}