{
    "disease_id": "DOID:0080564",
    "recommended_name": {
        "id": "DOID:0080564",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080564",
        "name": "congenital disorder of glycosylation Il",
        "description": "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080564",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080564",
            "name": "congenital disorder of glycosylation 1l",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "ALG9-congenital disorder of glycosylation",
            "description": "A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23)."
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "ALG9-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "ALG9-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "CDG syndrome type IL",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "CDG-IL",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "CDG1L",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "carbohydrate deficient glycoprotein syndrome type 1L",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "congenital disorder of glycosylation type 1L",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "mannosyltransferase 7-9 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "ALG9-CDG (CDG-IL)",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "CDG 1L",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "carbohydrate deficient glycoprotein syndrome type IL",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "congenital disorder of glycosylation type IL",
            "description": ""
        },
        {
            "id": "MONDO:0012117",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012117",
            "name": "congenital disorder of glycosylation, type IL",
            "description": ""
        },
        {
            "id": "MIM:608776",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608776",
            "name": "Congenital disorder of glycosylation 1L",
            "description": "Congenital disorder of glycosylation 1L"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080564"
    ],
    "unlinked_id_list": []
}