{
    "disease_id": "DOID:0060728",
    "recommended_name": {
        "id": "DOID:0060728",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060728",
        "name": "NGLY1-deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060728",
            "name": "NGLY1-CDDG",
            "description": ""
        },
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060728",
            "name": "congenital disorder of deglycosylation",
            "description": ""
        },
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060728",
            "name": "congenital disorder of glycosylation type Iv",
            "description": ""
        },
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060728",
            "name": "deficiency of N-glycanase 1",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "NGLY1-deficiency",
            "description": "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities."
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "alacrimia - choreoathetosis - liver dysfunction syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "congenital disorder of glycosylation, type IV, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "congenital disorder of deglycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "CDG Iv",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "congenital disorder of glycosylation, type IV",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "congenital disorder of deglycosylation; CDDG",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "NGLY1-CDDG",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "NGLY1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "CDDG",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "congenital disorder of glycosylation type IV",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "congenital disorder of glycosylation type Iv; CDG1V",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "congenital disorder of deglycosylation;CDDG",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "deficiency of N-glycanase 1",
            "description": ""
        },
        {
            "id": "MONDO:0014109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014109",
            "name": "CDG Iv, formerly",
            "description": ""
        },
        {
            "id": "MIM:615273",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615273",
            "name": "Congenital disorder of deglycosylation 1",
            "description": "Congenital disorder of deglycosylation 1"
        }
    ]
}