{
    "disease_id": "DOID:0080567",
    "recommended_name": {
        "id": "DOID:0080567",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080567",
        "name": "congenital disorder of glycosylation Ip",
        "description": "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14."
    },
    "synonyms": [
        {
            "id": "DOID:0080567",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080567",
            "name": "congenital disorder of glycosylation 1p",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "ALG11-CDG",
            "description": "(13q14.3)."
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "congenital disorder of glycosylation type 1p",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "congenital disorder of glycosylation, type Ip; CDG1P",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "CDG-Ip",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "carbohydrate deficient glycoprotein syndrome type Ip",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "ALG11-CDG (CDG-Ip)",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "CDG1P",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "CDG syndrome type Ip",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "congenital disorder of glycosylation type Ip",
            "description": ""
        },
        {
            "id": "MONDO:0013349",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013349",
            "name": "congenital disorder of glycosylation, type Ip",
            "description": ""
        },
        {
            "id": "MIM:613661",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613661",
            "name": "Congenital disorder of glycosylation 1P",
            "description": "Congenital disorder of glycosylation 1P"
        }
    ]
}