{
    "disease_id": "DOID:0080419",
    "recommended_name": {
        "id": "DOID:0080419",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080419",
        "name": "early infantile epileptic encephalopathy 50",
        "description": "An early infantile epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "DOID:0080419",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080419",
            "name": "CDG syndrome type Iz",
            "description": ""
        },
        {
            "id": "DOID:0080419",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080419",
            "name": "CDG-Iz",
            "description": ""
        },
        {
            "id": "DOID:0080419",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080419",
            "name": "Congenital disorder of glycosylation type 1z",
            "description": ""
        },
        {
            "id": "DOID:0080419",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080419",
            "name": "Carbohydrate deficient glycoprotein syndrome type Iz",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "CAD-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "epileptic encephalopathy, early infantile, 50",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "congenital disorder of glycosylation, type Iz, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "congenital disorder of glycosylation type 1z",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "carbohydrate deficient glycoprotein syndrome type Iz",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "CDG-Iz",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "CDG1Z",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "congenital disorder of glycosylation, type Iz",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "congenital disorder of glycosylation, type Iz; CDG1Z",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "epileptic encephalopathy, early infantile, 50; EIEE50",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "CDG syndrome type Iz",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "EIEE50",
            "description": ""
        },
        {
            "id": "MIM:616457",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616457",
            "name": "Developmental and epileptic encephalopathy 50",
            "description": "Developmental and epileptic encephalopathy 50"
        }
    ]
}