{
    "disease_id": "DOID:0080458", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014719", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014719", 
            "name": "ITPA-related encephalopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014719", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014719", 
            "name": "EIEE35"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014719", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014719", 
            "name": "epileptic encephalopathy, early infantile, 35"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014719", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014719", 
            "name": "epileptic encephalopathy, early infantile, type 35"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014719", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014719", 
            "name": "epileptic encephalopathy, early infantile, 35; EIEE35"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080458", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080458", 
            "name": "ITPA-related encephalopathy"
        }, 
        {
            "url": "https://www.omim.org/entry/616647", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616647", 
            "name": "Epileptic encephalopathy, early infantile, 35"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080458", 
        "description": "An early infantile epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080458", 
        "name": "early infantile epileptic encephalopathy 35"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616647", 
            "id": "616647", 
            "database": "MIM"
        }
    ]
}
