{
    "disease_id": "DOID:0080555", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "congenital disorder of glycosylation type 1C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "congenital disorder of glycosylation, type Ic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "ALG6-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type V, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "CDGIc"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type V"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "ALG6-CDG (CDG-Ic)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "carbohydrate-deficient glycoprotein syndrome type 1C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "CDG 1C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "CDG syndrome type Ic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "congenital disorder of glycosylation type Ic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "CDGS5 (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type V (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "glucosyltransferase 1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "CDG Ic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "ALG6 congenital disorder of glycosylation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "congenital disorder of glycosylation, type Ic; CDG1C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "congenital disorder of glycosylation caused by mutation in ALG6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "CDG1C"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "carbohydrate deficient glycoprotein syndrome type Ic"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011291", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011291", 
            "name": "CDG-Ic"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080555", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080555", 
            "name": "congenital disorder of glycosylation 1c"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080555", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080555", 
        "name": "congenital disorder of glycosylation Ic"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080555#disease-associations", 
            "id": "0080555", 
            "database": "Alliance of Genome Resources"
        }
    ]
}