{
    "disease_id": "DOID:0051086",
    "recommended_name": {
        "id": "DOID:0051086",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051086",
        "name": "developmental and epileptic encephalopathy 114",
        "description": "A developmental and epileptic encephalopathy that is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder and that has_material_basis_in heterozygous mutation in the SLC32A1 gene on chromosome 20q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0958331",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958331",
            "name": "developmental and epileptic encephalopathy 114",
            "description": ""
        },
        {
            "id": "MIM:620774",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620774",
            "name": "Developmental and epileptic encephalopathy 114",
            "description": "Developmental and epileptic encephalopathy 114"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051086"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051086",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051086",
            "categories": []
        },
        {
            "id": "MONDO:0958331",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958331",
            "categories": []
        },
        {
            "id": "MIM:620774",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620774",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H598-1",
            "uniprot_ac": "Q9H598",
            "uniprot_id": "VIAAT_HUMAN",
            "refseq_ac": "NP_542119",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vesicular inhibitory amino acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "GABA and glycine transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 32 member 1",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular GABA transporter",
                    "type": "synonym"
                },
                {
                    "name": "hVIAAT",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 32 (GABA vesicular transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "vesicular GABA transporter",
                    "type": "synonym"
                },
                {
                    "name": "vesicular inhibitory amino acid transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC32A1",
                    "type": "recommended"
                },
                {
                    "name": "DEE114",
                    "type": "synonym"
                },
                {
                    "name": "GEFSP12",
                    "type": "synonym"
                },
                {
                    "name": "SLC32A1",
                    "type": "synonym"
                },
                {
                    "name": "VGAT",
                    "type": "synonym"
                },
                {
                    "name": "VIAAT GEFSP12",
                    "type": "synonym"
                },
                {
                    "name": "VIAAT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H598-1",
            "evidence": [
                {
                    "id": "620774",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620774"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051086"
}