{
    "disease_id": "DOID:0080557", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "congenital disorder of glycosylation type 1E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "DPM1 congenital disorder of glycosylation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "CDG1E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "DPM1-CDG (CDG-Ie)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "CDG Ie"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "CDG syndrome type Ie"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "congenital disorder of glycosylation type Ie"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "CDGIe"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "congenital disorder of glycosylation caused by mutation in DPM1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "congenital disorder of glycosylation, type Ie; CDG1E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "CDG 1E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "carbohydrate-deficient glycoprotein syndrome type 1E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "congenital disorder of glycosylation, type Ie"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "Dol-P-mannosyltransferase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "DPM1-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "carbohydrate deficient glycoprotein syndrome type Ie"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012123", 
            "name": "CDG-Ie"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080557", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080557", 
            "name": "congenital disorder of glycosylation 1e"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080557", 
        "description": "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080557", 
        "name": "congenital disorder of glycosylation Ie"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080557#disease-associations", 
            "id": "0080557", 
            "database": "Alliance of Genome Resources"
        }
    ]
}