{
    "disease_id": "DOID:0070381",
    "recommended_name": {
        "id": "DOID:0070381",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070381",
        "name": "developmental and epileptic encephalopathy 90",
        "description": "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0070381",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070381",
            "name": "DEE90",
            "description": ""
        },
        {
            "id": "MONDO:0025353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025353",
            "name": "developmental and epileptic encephalopathy, 90",
            "description": ""
        },
        {
            "id": "MONDO:0025353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025353",
            "name": "DEE90",
            "description": ""
        },
        {
            "id": "MONDO:0025353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025353",
            "name": "developmental and epileptic encephalopathy 90",
            "description": ""
        },
        {
            "id": "MONDO:0025353",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025353",
            "name": "developmental and epileptic encephalopathy 90, X-linked recessive, X-linked dominant",
            "description": ""
        },
        {
            "id": "MIM:301058",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301058",
            "name": "Developmental and epileptic encephalopathy 90",
            "description": "Developmental and epileptic encephalopathy 90"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070381"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070381",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070381",
            "categories": []
        },
        {
            "id": "MONDO:0025353",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025353",
            "categories": []
        },
        {
            "id": "MIM:301058",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301058",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F6NSV0-1",
            "uniprot_ac": "F6NSV0",
            "uniprot_id": "F6NSV0_DANRE",
            "refseq_ac": "NP_001315421",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor",
                    "type": "recommended"
                },
                {
                    "name": "FGF",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 13, like",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 13b isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fgf13b",
                    "type": "recommended"
                },
                {
                    "name": "fgf13b",
                    "type": "synonym"
                },
                {
                    "name": "fgf13l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:76868",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NSV0-1",
            "evidence": [
                {
                    "id": "0070381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70377-1",
            "uniprot_ac": "P70377",
            "uniprot_id": "FGF13_MOUSE",
            "refseq_ac": "NP_001277344",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 13",
                    "type": "recommended"
                },
                {
                    "name": "FGF-13",
                    "type": "synonym"
                },
                {
                    "name": "FHF-2",
                    "type": "synonym"
                },
                {
                    "name": "Fibroblast growth factor homologous factor 2",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 13 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 1c",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor homologous factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf13",
                    "type": "recommended"
                },
                {
                    "name": "Fgf13",
                    "type": "synonym"
                },
                {
                    "name": "Fgf1c",
                    "type": "synonym"
                },
                {
                    "name": "Fhf2",
                    "type": "synonym"
                }
            ],
            "record_id": "P70377-1",
            "evidence": [
                {
                    "id": "0070381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92913-1",
            "uniprot_ac": "Q92913",
            "uniprot_id": "FGF13_HUMAN",
            "refseq_ac": "NP_001132970",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 13",
                    "type": "recommended"
                },
                {
                    "name": "FGF-13",
                    "type": "synonym"
                },
                {
                    "name": "FHF-2",
                    "type": "synonym"
                },
                {
                    "name": "Fibroblast growth factor homologous factor 2",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 13 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor homologous factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF13",
                    "type": "recommended"
                },
                {
                    "name": "DEE90",
                    "type": "synonym"
                },
                {
                    "name": "FGF-13",
                    "type": "synonym"
                },
                {
                    "name": "FGF13",
                    "type": "synonym"
                },
                {
                    "name": "FGF2",
                    "type": "synonym"
                },
                {
                    "name": "FHF-2",
                    "type": "synonym"
                },
                {
                    "name": "FHF2",
                    "type": "synonym"
                },
                {
                    "name": "LINC00889",
                    "type": "synonym"
                },
                {
                    "name": "XLID110",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92913-1",
            "evidence": [
                {
                    "id": "301058",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301058"
                },
                {
                    "id": "0070381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERW3-1",
            "uniprot_ac": "Q9ERW3",
            "uniprot_id": "FGF13_RAT",
            "refseq_ac": "NP_445880",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 13",
                    "type": "recommended"
                },
                {
                    "name": "FGF-13",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 13 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 1c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf13",
                    "type": "recommended"
                },
                {
                    "name": "FGF-13",
                    "type": "synonym"
                },
                {
                    "name": "Fgf13",
                    "type": "synonym"
                },
                {
                    "name": "Fgf1c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERW3-1",
            "evidence": [
                {
                    "id": "0070381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070381"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDT9-1",
            "uniprot_ac": "Q9VDT9",
            "uniprot_id": "Q9VDT9_DROME",
            "refseq_ac": "NP_732452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor",
                    "type": "recommended"
                },
                {
                    "name": "CG4608-PA",
                    "type": "synonym"
                },
                {
                    "name": "FGF",
                    "type": "synonym"
                },
                {
                    "name": "bnl-PA",
                    "type": "synonym"
                },
                {
                    "name": "branchless, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "branchless",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor protein",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor)",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bnl",
                    "type": "recommended"
                },
                {
                    "name": "BNL",
                    "type": "synonym"
                },
                {
                    "name": "Bnl/FGF",
                    "type": "synonym"
                },
                {
                    "name": "Bnl",
                    "type": "synonym"
                },
                {
                    "name": "Branchless",
                    "type": "synonym"
                },
                {
                    "name": "CG4608",
                    "type": "synonym"
                },
                {
                    "name": "DFGF",
                    "type": "synonym"
                },
                {
                    "name": "DmBnl",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4608",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4608",
                    "type": "synonym"
                },
                {
                    "name": "FGF-2",
                    "type": "synonym"
                },
                {
                    "name": "FGF",
                    "type": "synonym"
                },
                {
                    "name": "bnl",
                    "type": "synonym"
                },
                {
                    "name": "dFGF",
                    "type": "synonym"
                },
                {
                    "name": "l(3)06916",
                    "type": "synonym"
                },
                {
                    "name": "l(3)neo52",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDT9-1",
            "evidence": [
                {
                    "id": "0070381",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070381"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070381"
}