{
    "disease_id": "DOID:0080455",
    "recommended_name": {
        "id": "DOID:0080455",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080455",
        "name": "developmental and epileptic encephalopathy 52",
        "description": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080455",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080455",
            "name": "DEE52",
            "description": ""
        },
        {
            "id": "DOID:0080455",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080455",
            "name": "early infantile epileptic encephalopathy 52",
            "description": ""
        },
        {
            "id": "MONDO:0033361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "name": "developmental and epileptic encephalopathy, 52",
            "description": ""
        },
        {
            "id": "MONDO:0033361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "name": "DEE52",
            "description": ""
        },
        {
            "id": "MONDO:0033361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "name": "EIEE52",
            "description": ""
        },
        {
            "id": "MONDO:0033361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "name": "developmental and epileptic encephalopathy 52",
            "description": ""
        },
        {
            "id": "MONDO:0033361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "name": "epileptic encephalopathy, early infantile, 52",
            "description": ""
        },
        {
            "id": "MIM:617350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617350",
            "name": "Developmental and epileptic encephalopathy 52",
            "description": "Developmental and epileptic encephalopathy 52"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080455"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080455",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080455",
            "categories": []
        },
        {
            "id": "MONDO:0033361",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "categories": []
        },
        {
            "id": "MIM:617350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617350",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97952-1",
            "uniprot_ac": "P97952",
            "uniprot_id": "SCN1B_MOUSE",
            "refseq_ac": "NP_035452",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel regulatory subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel regulatory subunit beta-1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type I, beta polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn1b",
                    "type": "recommended"
                },
                {
                    "name": "Scn1b",
                    "type": "synonym"
                }
            ],
            "record_id": "P97952-1",
            "evidence": [
                {
                    "id": "0080455",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080455"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07699-1",
            "uniprot_ac": "Q07699",
            "uniprot_id": "SCN1B_HUMAN",
            "refseq_ac": "NP_001028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel regulatory subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel regulatory subunit beta-1 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage gated, type I beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type I, beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN1B",
                    "type": "recommended"
                },
                {
                    "name": "ATFB13",
                    "type": "synonym"
                },
                {
                    "name": "BRGDA5",
                    "type": "synonym"
                },
                {
                    "name": "DEE52",
                    "type": "synonym"
                },
                {
                    "name": "EIEE52",
                    "type": "synonym"
                },
                {
                    "name": "GEFSP1",
                    "type": "synonym"
                },
                {
                    "name": "SCN1B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07699-1",
            "evidence": [
                {
                    "id": "617350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617350"
                },
                {
                    "id": "0080455",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080455"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00954-1",
            "uniprot_ac": "Q00954",
            "uniprot_id": "SCN1B_RAT",
            "refseq_ac": "NP_001257974",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel regulatory subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel regulatory subunit beta-1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type 1, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type I, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type I, beta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn1b",
                    "type": "recommended"
                },
                {
                    "name": "Scn1b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00954-1",
            "evidence": [
                {
                    "id": "0080455",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080455"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14324-1",
            "uniprot_ac": "P14324",
            "uniprot_id": "FPPS_HUMAN",
            "refseq_ac": "NP_001129293",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Farnesyl pyrophosphate synthase",
                    "type": "recommended"
                },
                {
                    "name": "(2E,6E)-farnesyl diphosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.10",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Dimethylallyltranstransferase",
                    "type": "synonym"
                },
                {
                    "name": "FPP synthase",
                    "type": "synonym"
                },
                {
                    "name": "FPP synthetase",
                    "type": "synonym"
                },
                {
                    "name": "FPS",
                    "type": "synonym"
                },
                {
                    "name": "Farnesyl diphosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "Geranyltranstransferase",
                    "type": "synonym"
                },
                {
                    "name": "farnesyl pyrophosphate synthase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "farnesyl pyrophosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FDPS",
                    "type": "recommended"
                },
                {
                    "name": "FDPS",
                    "type": "synonym"
                },
                {
                    "name": "FPPS",
                    "type": "synonym"
                },
                {
                    "name": "FPS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1293",
                    "type": "synonym"
                },
                {
                    "name": "POROK9",
                    "type": "synonym"
                }
            ],
            "record_id": "P14324-1",
            "evidence": [
                {
                    "id": "0080455",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080455"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080455"
}