{
    "disease_id": "DOID:0051085",
    "recommended_name": {
        "id": "DOID:0051085",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051085",
        "name": "developmental and epileptic encephalopathy 113",
        "description": "A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that has_material_basis_in homozygous mutation in the SV2A gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0958330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958330",
            "name": "developmental and epileptic encephalopathy 113",
            "description": ""
        },
        {
            "id": "MIM:620772",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620772",
            "name": "Developmental and epileptic encephalopathy 113",
            "description": "Developmental and epileptic encephalopathy 113"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051085"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051085",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051085",
            "categories": []
        },
        {
            "id": "MONDO:0958330",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958330",
            "categories": []
        },
        {
            "id": "MIM:620772",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620772",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7L0J3-1",
            "uniprot_ac": "Q7L0J3",
            "uniprot_id": "SV2A_HUMAN",
            "refseq_ac": "NP_001265648",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptic vesicle glycoprotein 2A",
                    "type": "recommended"
                },
                {
                    "name": "solute carrier family 22 member B1",
                    "type": "synonym"
                },
                {
                    "name": "synaptic vesicle glycoprotein 2A isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SV2A",
                    "type": "recommended"
                },
                {
                    "name": "DEE113",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0736",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0174",
                    "type": "synonym"
                },
                {
                    "name": "SLC22B1",
                    "type": "synonym"
                },
                {
                    "name": "SV2A",
                    "type": "synonym"
                },
                {
                    "name": "SV2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7L0J3-1",
            "evidence": [
                {
                    "id": "620772",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620772"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051085"
}