{
    "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-congenital disorder of glycosylation",
            "description": "STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1)."
        },
        {
            "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": "CDG-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": "STT3B-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014271",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014271",
            "name": "STT3B-congenital disorder of glycosylation",
            "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": "congenital disorder of glycosylation type 1x",
            "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": "CDG IX",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080573"
    ],
    "unlinked_id_list": []
}