{
    "disease_id": "DOID:0070265",
    "recommended_name": {
        "id": "DOID:0070265",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070265",
        "name": "congenital disorder of glycosylation type IIm",
        "description": "A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "SLC35A2-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "congenital disorder of glycosylation type 2m",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "epileptic encephalopathy, early infantile, 22",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "developmental and epileptic encephalopathy 22",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "CDG IIm",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "CDGIIm",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "DEE22",
            "description": ""
        },
        {
            "id": "DOID:0070265",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070265",
            "name": "EIEE22",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "SLC35A2-congenital disorder of glycosylation",
            "description": "SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum)."
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "CDG syndrome type IIm",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "CDG-IIm",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "CDG2M",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "SLC35A2-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "SLC35A2-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "congenital disorder of glycosylation type 2m",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "congenital disorder of glycosylation type IIm",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "EIEE22",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "congenital disorder of glycosylation, type IIm",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "epileptic encephalopathy, early infantile, 22",
            "description": ""
        },
        {
            "id": "MONDO:0010478",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010478",
            "name": "epileptic encephalopathy, early infantile, 22; EIEE22",
            "description": ""
        },
        {
            "id": "MIM:300896",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300896",
            "name": "Congenital disorder of glycosylation 2M",
            "description": "Congenital disorder of glycosylation 2M"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070265"
    ],
    "unlinked_id_list": []
}