{
    "disease_id": "DOID:0080560",
    "recommended_name": {
        "id": "DOID:0080560",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080560",
        "name": "congenital disorder of glycosylation Ih",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080560",
            "name": "congenital disorder of glycosylation 1h",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "ALG8-congenital disorder of glycosylation",
            "description": "A form of congenital disorders of N-linked glycosylation 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. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation."
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "ALG8-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "ALG8-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "CDG syndrome type Ih",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "CDG-Ih",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "CDG1H",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "carbohydrate deficient glycoprotein syndrome type Ih",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "congenital disorder of glycosylation type 1h",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "congenital disorder of glycosylation type Ih",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "glucosyltransferase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "ALG8-CDG (CDG-Ih)",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "CDG 1H",
            "description": ""
        },
        {
            "id": "MONDO:0011969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011969",
            "name": "congenital disorder of glycosylation, type Ih",
            "description": ""
        },
        {
            "id": "MIM:608104",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608104",
            "name": "Congenital disorder of glycosylation 1H",
            "description": "Congenital disorder of glycosylation 1H"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080560"
    ],
    "unlinked_id_list": []
}