{
    "disease_id": "DOID:0070256",
    "recommended_name": {
        "id": "DOID:0070256",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070256",
        "name": "congenital disorder of glycosylation type IId",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070256",
            "name": "CDG IId",
            "description": ""
        },
        {
            "id": "DOID:0070256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070256",
            "name": "CDG2D",
            "description": ""
        },
        {
            "id": "DOID:0070256",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070256",
            "name": "CDGIId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "B4GALT1-CDG",
            "description": "B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase."
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "carbohydrate deficient glycoprotein syndrome type IId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "CDG-IId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "congenital disorder of glycosylation, type IId; CDG2D",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "congenital disorder of glycosylation, type IId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "Beta-1,4-galactosyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "CDG 2D",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "B4GALT1-CDG (CDG-IId)",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "congenital disorder of glycosylation type IId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "CDG syndrome type IId",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "congenital disorder of glycosylation type 2d",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "CDG2D",
            "description": ""
        },
        {
            "id": "MONDO:0011772",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011772",
            "name": "CDG IId",
            "description": ""
        },
        {
            "id": "MIM:607091",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607091",
            "name": "Congenital disorder of glycosylation 2D",
            "description": "Congenital disorder of glycosylation 2D"
        }
    ]
}