{
    "disease_id": "DOID:0080349",
    "recommended_name": {
        "id": "DOID:0080349",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080349",
        "name": "developmental and epileptic encephalopathy 39",
        "description": "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0080349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080349",
            "name": "early infantile epileptic encephalopathy 39",
            "description": ""
        },
        {
            "id": "DOID:0080349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080349",
            "name": "epileptic encephalopathy with global cerebral demyelination",
            "description": ""
        },
        {
            "id": "DOID:0080349",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080349",
            "name": "AGC1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "developmental and epileptic encephalopathy, 39",
            "description": "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": "AGC1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013056",
            "name": "DEE39",
            "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": "SLC25A12 early infantile epileptic encephalopathy",
            "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": "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": "mitochondrial aspartate-glutamate carrier 1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:612949",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612949",
            "name": "Developmental and epileptic encephalopathy 39 with leukodystrophy",
            "description": "Developmental and epileptic encephalopathy 39 with leukodystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080349"
    ],
    "unlinked_id_list": []
}