{
    "disease_id": "DOID:0080556",
    "recommended_name": {
        "id": "DOID:0080556",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080556",
        "name": "congenital disorder of glycosylation Id",
        "description": "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "DOID:0080556",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080556",
            "name": "congenital disorder of glycosylation 1d",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "ALG3-congenital disorder of glycosylation",
            "description": "A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3)."
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "ALG3-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "ALG3-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDG syndrome type Id",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDG-Id",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDG1D",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDGId",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "carbohydrate deficient glycoprotein syndrome type Id",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "congenital disorder of glycosylation type 1d",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "congenital disorder of glycosylation type Id",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "mannosyltransferase 6 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "ALG3-CDG (CDG-Id)",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDG 1D",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "CDGS4 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "carbohydrate-deficient glycoprotein syndrome type IV (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0010998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010998",
            "name": "congenital disorder of glycosylation, type Id",
            "description": ""
        },
        {
            "id": "MIM:601110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601110",
            "name": "Congenital disorder of glycosylation 1D",
            "description": "Congenital disorder of glycosylation 1D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080556"
    ],
    "unlinked_id_list": []
}