{
    "disease_id": "DOID:0080349",
    "recommended_name": {
        "id": "DOID:0080349",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080349",
        "name": "early infantile epileptic encephalopathy 39",
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0080349",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080349",
            "name": "epileptic encephalopathy with global cerebral demyelination",
            "description": ""
        },
        {
            "id": "DOID:0080349",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080349",
            "name": "AGC1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "epileptic encephalopathy with global cerebral demyelination",
            "description": "Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease."
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "mitochondrial aspartate-glutamate carrier 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "early infantile epileptic encephalopathy caused by mutation in SLC25A12",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "aspartate-glutamate carrier 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "AGC1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "SLC25A12 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "hypomyelination, global cerebral",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "EIEE39",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "epileptic encephalopathy with global cerebral demyelination",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "epileptic encephalopathy, early infantile, 39",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "epileptic encephalopathy, early infantile, 39; EIEE39",
            "description": ""
        },
        {
            "id": "MIM:612949",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612949",
            "name": "Developmental and epileptic encephalopathy 39",
            "description": "Developmental and epileptic encephalopathy 39"
        }
    ]
}