{
    "disease_id": "DOID:0080573",
    "recommended_name": {
        "id": "DOID:0080573",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080573",
        "name": "congenital disorder of glycosylation Ix",
        "description": "A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23."
    },
    "synonyms": [
        {
            "id": "DOID:0080573",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080573",
            "name": "congenital disorder of glycosylation 1x",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "STT3B-CDG",
            "description": "(3p24.1)."
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "congenital disorder of glycosylation type 1x",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "CDG IX",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "CDG-Ix",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "carbohydrate deficient glycoprotein syndrome type IX",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "CDG1X",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "CDG syndrome type IX",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "congenital disorder of glycosylation type IX",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "congenital disorder of glycosylation, type IX; CDG1X",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "congenital disorder of glycosylation, type IX",
            "description": ""
        },
        {
            "id": "MIM:615597",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615597",
            "name": "Congenital disorder of glycosylation 1X",
            "description": "Congenital disorder of glycosylation 1X"
        }
    ]
}