{
    "disease_id": "DOID:0080552", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "PMM2-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "CDG syndrome type Ia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "congenital disorder of glycosylation type Ia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "Jaeken syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "congenital disorder of glycosylation, type Ia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "carbohydrate-deficient glycoprotein syndrome type 1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "CDGIa"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "CDG 1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type Ia, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "carbohydrate-deficient glycoprotein syndrome, type Ia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "PMM2-CDG (CDG-Ia)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "congenital disorder of glycosylation type 1a"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "carbohydrate deficient glycoprotein syndrome type Ia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "CDG1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "CDG-Ia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "CDG Ia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "phosphomannomutase 2 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008907", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008907", 
            "name": "congenital disorder of glycosylation, type Ia; CDG1A"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080552", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080552", 
            "name": "PMM2-congenital disorder of glycosylation"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080552", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080552", 
            "name": "congenital disorder of glycosylation 1a"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080552", 
        "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080552", 
        "name": "congenital disorder of glycosylation Ia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080552#disease-associations", 
            "id": "0080552", 
            "database": "Alliance of Genome Resources"
        }
    ]
}