{
    "disease_id": "DOID:0060728",
    "recommended_name": {
        "id": "DOID:0060728",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060728",
        "name": "congenital disorder of deglycosylation 1",
        "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 3p24."
    },
    "synonyms": [
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060728",
            "name": "NGLY1-CDDG",
            "description": ""
        },
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060728",
            "name": "congenital disorder of glycosylation type Iv",
            "description": ""
        },
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060728",
            "name": "deficiency of N-glycanase 1",
            "description": ""
        },
        {
            "id": "DOID:0060728",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060728",
            "name": "NGLY1-deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of deglycosylation 1",
            "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:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "CDDG",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of deglycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of deglycosylation;CDDG",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "CDG1V",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "NGLY1 Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "NGLY1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "NGLY1-CDDG",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "NGLY1-deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "NGLY1-related congenital disorder of deglycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of deglycosylation 1",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of glycosylation type IV",
            "description": ""
        },
        {
            "id": "MONDO:0800044",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800044",
            "name": "congenital disorder of glycosylation, type IV",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060728"
    ],
    "unlinked_id_list": []
}