{
    "disease_id": "DOID:0080554",
    "recommended_name": {
        "id": "DOID:0080554",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080554",
        "name": "congenital disorder of glycosylation Ib",
        "description": "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."
    },
    "synonyms": [
        {
            "id": "DOID:0080554",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080554",
            "name": "congenital disorder of glycosylation 1b",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "MPI-CDG",
            "description": "(15q24.1)."
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "SLSJ syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "Mannosephosphate isomerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "CDG gastrointestinal type",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "CDG1B",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "congenital disorder of glycosylation type 1b",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "carbohydrate deficient glycoprotein syndrome type IB",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "CDG-Ib",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "CDG 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "CDG Ib",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "Mpi deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "Slsj syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "congenital disorder of glycosylation, type IB; CDG1B",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "CDG, gastrointestinal type",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "CDG syndrome type IB",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "congenital disorder of glycosylation type IB",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "phosphomannose isomerase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "Saguenay Lac Saint Jean syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "Protein-losing enteropathy-hepatic fibrosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "Saguenay-Lac Saint-Jean syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "congenital disorder of glycosylation, type IB",
            "description": ""
        },
        {
            "id": "MONDO:0011257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011257",
            "name": "MPI-CDG (CDG-Ib)",
            "description": ""
        },
        {
            "id": "MIM:602579",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602579",
            "name": "Congenital disorder of glycosylation 1B",
            "description": "Congenital disorder of glycosylation 1B"
        }
    ]
}