{
    "disease_id": "DOID:0060728", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "alacrimia - choreoathetosis - liver dysfunction syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "congenital disorder of glycosylation, type IV, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "congenital disorder of deglycosylation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "CDG Iv"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "congenital disorder of glycosylation, type IV"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "congenital disorder of deglycosylation; CDDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "NGLY1-CDDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "NGLY1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "CDDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "congenital disorder of glycosylation type IV"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "congenital disorder of glycosylation type Iv; CDG1V"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "congenital disorder of deglycosylation;CDDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "deficiency of N-glycanase 1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014109", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014109", 
            "name": "CDG Iv, formerly"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060728", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060728", 
            "name": "NGLY1-CDDG"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060728", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060728", 
            "name": "congenital disorder of deglycosylation"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060728", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060728", 
            "name": "congenital disorder of glycosylation type Iv"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060728", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060728", 
            "name": "deficiency of N-glycanase 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060728", 
        "description": "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060728", 
        "name": "NGLY1-deficiency"
    }, 
    "evidence": [
        {
            "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PGM1/#!details", 
            "id": "PGM1", 
            "database": "Genomics England"
        }
    ]
}