{
    "disease_id": "DOID:0080560", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "ALG8-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "ALG8-CDG (CDG-Ih)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "CDG syndrome type Ih"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "congenital disorder of glycosylation type Ih"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "congenital disorder of glycosylation, type Ih"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "congenital disorder of glycosylation, type Ih; CDG1H"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "CDG 1H"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "glucosyltransferase 2 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "congenital disorder of glycosylation type 1h"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "carbohydrate deficient glycoprotein syndrome type Ih"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "CDG-Ih"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "CDG Ih"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011969", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011969", 
            "name": "CDG1H"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080560", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080560", 
            "name": "congenital disorder of glycosylation 1h"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080560", 
        "description": "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080560", 
        "name": "congenital disorder of glycosylation Ih"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080560#disease-associations", 
            "id": "0080560", 
            "database": "Alliance of Genome Resources"
        }
    ]
}