{
    "disease_id": "DOID:0080419", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "CAD-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "epileptic encephalopathy, early infantile, 50"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "congenital disorder of glycosylation, type Iz, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "congenital disorder of glycosylation type 1z"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "carbohydrate deficient glycoprotein syndrome type Iz"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "CDG-Iz"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "CDG1Z"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "congenital disorder of glycosylation, type Iz"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "congenital disorder of glycosylation, type Iz; CDG1Z"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "epileptic encephalopathy, early infantile, 50; EIEE50"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "CDG syndrome type Iz"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014647", 
            "name": "EIEE50"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080419", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080419", 
            "name": "CDG syndrome type Iz"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080419", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080419", 
            "name": "CDG-Iz"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080419", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080419", 
            "name": "Congenital disorder of glycosylation type 1z"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080419", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080419", 
            "name": "Carbohydrate deficient glycoprotein syndrome type Iz"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080419", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080419", 
        "name": "early infantile epileptic encephalopathy 50"
    }, 
    "evidence": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014647", 
            "id": "0014647", 
            "database": "MONDO"
        }, 
        {
            "url": "https://www.omim.org/entry/616457", 
            "id": "616457", 
            "database": "MIM"
        }
    ]
}