{
    "disease_id": "DOID:0080459",
    "recommended_name": {
        "id": "DOID:0080459",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080459",
        "name": "developmental and epileptic encephalopathy 12",
        "description": "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0080459",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080459",
            "name": "early infantile epileptic encephalopathy 12",
            "description": ""
        },
        {
            "id": "DOID:0080459",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080459",
            "name": "DEE12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "developmental and epileptic encephalopathy, 12",
            "description": "An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion."
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "early infantile epileptic encephalopathy caused by mutation in PLCB1",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "early infantile epileptic encephalopathy 12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "epileptic encephalopathy, early infantile, 12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "developmental and epileptic encephalopathy, 12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "DEE12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "PLCB1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "epileptic encephalopathy, early infantile, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "EIEE12",
            "description": ""
        },
        {
            "id": "MONDO:0013389",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013389",
            "name": "developmental and epileptic encephalopathy 12",
            "description": ""
        },
        {
            "id": "MIM:613722",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613722",
            "name": "Developmental and epileptic encephalopathy 12",
            "description": "Developmental and epileptic encephalopathy 12"
        }
    ]
}