{
    "disease_id": "DOID:0080413",
    "recommended_name": {
        "id": "DOID:0080413",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080413",
        "name": "developmental and epileptic encephalopathy 18",
        "description": "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0080413",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080413",
            "name": "DEE18",
            "description": ""
        },
        {
            "id": "DOID:0080413",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080413",
            "name": "early infantile epileptic encephalopathy 18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "developmental and epileptic encephalopathy, 18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "DEE18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "EIEE18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "developmental and epileptic encephalopathy 18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "early infantile epileptic encephalopathy without suppression burst",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "epileptic encephalopathy, early infantile, 18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "epileptic encephalopathy, early infantile, type 18",
            "description": ""
        },
        {
            "id": "MIM:615476",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615476",
            "name": "Developmental and epileptic encephalopathy 18",
            "description": "Developmental and epileptic encephalopathy 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080413"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080413",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080413",
            "categories": []
        },
        {
            "id": "MONDO:0014201",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "categories": []
        },
        {
            "id": "MIM:615476",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615476",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2A9C3-1",
            "uniprot_ac": "A2A9C3",
            "uniprot_id": "SZT2_MOUSE",
            "refseq_ac": "NP_937813",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "KICSTOR complex protein SZT2",
                    "type": "recommended"
                },
                {
                    "name": "KICSTOR complex protein SZT2",
                    "type": "synonym"
                },
                {
                    "name": "Seizure threshold 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "TIGR",
                    "type": "synonym"
                },
                {
                    "name": "Transcript increased in glutamate resistance",
                    "type": "synonym"
                },
                {
                    "name": "seaizure threshold 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Szt2",
                    "type": "recommended"
                },
                {
                    "name": "6430407N22",
                    "type": "synonym"
                },
                {
                    "name": "Szt2",
                    "type": "synonym"
                },
                {
                    "name": "TIGR",
                    "type": "synonym"
                }
            ],
            "record_id": "A2A9C3-1",
            "evidence": [
                {
                    "id": "0080413",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080413"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T011-1",
            "uniprot_ac": "Q5T011",
            "uniprot_id": "SZT2_HUMAN",
            "refseq_ac": "NP_056099",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "KICSTOR complex protein SZT2",
                    "type": "recommended"
                },
                {
                    "name": "KICSTOR complex protein SZT2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "KICSTOR complex protein SZT2",
                    "type": "synonym"
                },
                {
                    "name": "SZT2 subunit KICSTOR complex",
                    "type": "synonym"
                },
                {
                    "name": "SZT2, KICSTOR complex subunit",
                    "type": "synonym"
                },
                {
                    "name": "Seizure threshold 2 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "seizure threshold 2 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SZT2",
                    "type": "recommended"
                },
                {
                    "name": "C1orf84",
                    "type": "synonym"
                },
                {
                    "name": "DEE18",
                    "type": "synonym"
                },
                {
                    "name": "EIEE18",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0467",
                    "type": "synonym"
                },
                {
                    "name": "KICS1",
                    "type": "synonym"
                },
                {
                    "name": "SZT2A",
                    "type": "synonym"
                },
                {
                    "name": "SZT2B",
                    "type": "synonym"
                },
                {
                    "name": "SZT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T011-1",
            "evidence": [
                {
                    "id": "615476",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615476"
                },
                {
                    "id": "0080413",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080413"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZUQ8-1",
            "uniprot_ac": "D3ZUQ8",
            "uniprot_id": "D3ZUQ8_RAT",
            "refseq_ac": "NP_001414527",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KICSTOR complex protein SZT2",
                    "type": "synonym"
                },
                {
                    "name": "SZT2 subunit of KICSTOR complex",
                    "type": "synonym"
                },
                {
                    "name": "SZT2, KICSTOR complex subunit",
                    "type": "synonym"
                },
                {
                    "name": "protein SZT2-like",
                    "type": "synonym"
                },
                {
                    "name": "protein SZT2",
                    "type": "synonym"
                },
                {
                    "name": "seizure threshold 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Szt2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1308616",
                    "type": "synonym"
                },
                {
                    "name": "Szt2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZUQ8-1",
            "evidence": [
                {
                    "id": "0080413",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080413"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080413"
}