{
    "disease_id": "DOID:0070383",
    "recommended_name": {
        "id": "DOID:0070383",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070383",
        "name": "developmental and epileptic encephalopathy 97",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14."
    },
    "synonyms": [
        {
            "id": "DOID:0070383",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070383",
            "name": "DEE97",
            "description": ""
        },
        {
            "id": "DOID:0070383",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070383",
            "name": "early infantile epileptic encephalopathy 97",
            "description": ""
        },
        {
            "id": "MONDO:0030453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030453",
            "name": "developmental and epileptic encephalopathy 97",
            "description": ""
        },
        {
            "id": "MONDO:0030453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030453",
            "name": "DEE97",
            "description": ""
        },
        {
            "id": "MIM:619561",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619561",
            "name": "Developmental and epileptic encephalopathy 97",
            "description": "Developmental and epileptic encephalopathy 97"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070383"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070383",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070383",
            "categories": []
        },
        {
            "id": "MONDO:0030453",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030453",
            "categories": []
        },
        {
            "id": "MIM:619561",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619561",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P0B1-1",
            "uniprot_ac": "Q6P0B1",
            "uniprot_id": "CELF2_DANRE",
            "refseq_ac": "NP_001429891",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CUGBP Elav-like family member 2",
                    "type": "recommended"
                },
                {
                    "name": "Bruno-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "CELF-2",
                    "type": "synonym"
                },
                {
                    "name": "CUG triplet repeat RNA-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CUG-BP- and ETR-3-like factor 2",
                    "type": "synonym"
                },
                {
                    "name": "CUG-BP2",
                    "type": "synonym"
                },
                {
                    "name": "CUGBP Elav-like family member 2 isoform 10",
                    "type": "synonym"
                },
                {
                    "name": "ELAV-type RNA-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ETR-3",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein BRUNOL-3",
                    "type": "synonym"
                },
                {
                    "name": "bruno-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "napor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "celf2",
                    "type": "recommended"
                },
                {
                    "name": "Etr-3",
                    "type": "synonym"
                },
                {
                    "name": "cb906",
                    "type": "synonym"
                },
                {
                    "name": "celf2",
                    "type": "synonym"
                },
                {
                    "name": "cugbp2",
                    "type": "synonym"
                },
                {
                    "name": "etr3",
                    "type": "synonym"
                },
                {
                    "name": "fj87b07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj87b07",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P0B1-1",
            "evidence": [
                {
                    "id": "0070383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0H4-1",
            "uniprot_ac": "Q9Z0H4",
            "uniprot_id": "CELF2_MOUSE",
            "refseq_ac": "NP_001103698",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CUGBP Elav-like family member 2",
                    "type": "recommended"
                },
                {
                    "name": "Bruno-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "CELF-2",
                    "type": "synonym"
                },
                {
                    "name": "CUG triplet repeat RNA-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CUG triplet repeat, RNA binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CUG-BP- and ETR-3-like factor 2",
                    "type": "synonym"
                },
                {
                    "name": "CUG-BP2",
                    "type": "synonym"
                },
                {
                    "name": "CUGBP Elav-like family member 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ELAV-type RNA-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ETR-3",
                    "type": "synonym"
                },
                {
                    "name": "Neuroblastoma apoptosis-related RNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein BRUNOL-3",
                    "type": "synonym"
                },
                {
                    "name": "bruno-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "elav-type RNA-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "mETR-3",
                    "type": "synonym"
                },
                {
                    "name": "mNapor",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma apoptosis-related RNA-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Celf2",
                    "type": "recommended"
                },
                {
                    "name": "B230218O03",
                    "type": "synonym"
                },
                {
                    "name": "B230345P09Rik",
                    "type": "synonym"
                },
                {
                    "name": "CELF-2",
                    "type": "synonym"
                },
                {
                    "name": "CUG-BP2",
                    "type": "synonym"
                },
                {
                    "name": "Celf2",
                    "type": "synonym"
                },
                {
                    "name": "Cugbp2",
                    "type": "synonym"
                },
                {
                    "name": "D230046B21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Etr-3",
                    "type": "synonym"
                },
                {
                    "name": "Napor-2",
                    "type": "synonym"
                },
                {
                    "name": "Napor",
                    "type": "synonym"
                },
                {
                    "name": "mETR-3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0H4-1",
            "evidence": [
                {
                    "id": "0070383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95319-1",
            "uniprot_ac": "O95319",
            "uniprot_id": "CELF2_HUMAN",
            "refseq_ac": "NP_001020247",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CUGBP Elav-like family member 2",
                    "type": "recommended"
                },
                {
                    "name": "Bruno-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "CELF-2",
                    "type": "synonym"
                },
                {
                    "name": "CUG triplet repeat RNA-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CUG-BP- and ETR-3-like factor 2",
                    "type": "synonym"
                },
                {
                    "name": "CUG-BP2",
                    "type": "synonym"
                },
                {
                    "name": "CUGBP Elav-like family member 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ELAV-type RNA-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ETR-3",
                    "type": "synonym"
                },
                {
                    "name": "KDM2B/CELF2 fusion",
                    "type": "synonym"
                },
                {
                    "name": "Neuroblastoma apoptosis-related RNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein BRUNOL-3",
                    "type": "synonym"
                },
                {
                    "name": "bruno-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "hNAPOR",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma apoptosis-related RNA-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CELF2",
                    "type": "recommended"
                },
                {
                    "name": "BRUNOL3",
                    "type": "synonym"
                },
                {
                    "name": "CELF-2",
                    "type": "synonym"
                },
                {
                    "name": "CELF2",
                    "type": "synonym"
                },
                {
                    "name": "CUG-BP2",
                    "type": "synonym"
                },
                {
                    "name": "CUGBP2",
                    "type": "synonym"
                },
                {
                    "name": "DEE97",
                    "type": "synonym"
                },
                {
                    "name": "ETR-3",
                    "type": "synonym"
                },
                {
                    "name": "ETR3",
                    "type": "synonym"
                },
                {
                    "name": "NAPOR",
                    "type": "synonym"
                }
            ],
            "record_id": "O95319-1",
            "evidence": [
                {
                    "id": "619561",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619561"
                },
                {
                    "id": "0070383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q792H5-1",
            "uniprot_ac": "Q792H5",
            "uniprot_id": "CELF2_RAT",
            "refseq_ac": "NP_058893",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CUGBP Elav-like family member 2",
                    "type": "recommended"
                },
                {
                    "name": "Bruno-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "CELF-2",
                    "type": "synonym"
                },
                {
                    "name": "CUG triplet repeat RNA-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CUG triplet repeat, RNA binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "CUG-BP- and ETR-3-like factor 2",
                    "type": "synonym"
                },
                {
                    "name": "CUG-BP2",
                    "type": "synonym"
                },
                {
                    "name": "CUGBP Elav-like family member 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Cugbp- and Etr3-like factor 2",
                    "type": "synonym"
                },
                {
                    "name": "ELAV-type RNA-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ETR-3",
                    "type": "synonym"
                },
                {
                    "name": "Neuroblastoma apoptosis-related RNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein ETR-R3",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein BRUNOL-3",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein Brunol3",
                    "type": "synonym"
                },
                {
                    "name": "bruno-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "elav-type RNA-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "neuroblastoma apoptosis-related RNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "rNapor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Celf2",
                    "type": "recommended"
                },
                {
                    "name": "Brunol3",
                    "type": "synonym"
                },
                {
                    "name": "Celf2",
                    "type": "synonym"
                },
                {
                    "name": "Cugbp2",
                    "type": "synonym"
                },
                {
                    "name": "Etr3",
                    "type": "synonym"
                },
                {
                    "name": "Napor",
                    "type": "synonym"
                }
            ],
            "record_id": "Q792H5-1",
            "evidence": [
                {
                    "id": "0070383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IP90-1",
            "uniprot_ac": "Q8IP90",
            "uniprot_id": "Q8IP90_DROME",
            "refseq_ac": "NP_001260403",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bruno 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Bruno 1, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "CG31762-PG",
                    "type": "synonym"
                },
                {
                    "name": "arrest",
                    "type": "synonym"
                },
                {
                    "name": "bru1-PG",
                    "type": "synonym"
                },
                {
                    "name": "bruno 1, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "bruno",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bru1",
                    "type": "recommended"
                },
                {
                    "name": "ARET",
                    "type": "synonym"
                },
                {
                    "name": "Aret",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GM15173",
                    "type": "synonym"
                },
                {
                    "name": "Bru1",
                    "type": "synonym"
                },
                {
                    "name": "Bruno",
                    "type": "synonym"
                },
                {
                    "name": "Bru",
                    "type": "synonym"
                },
                {
                    "name": "CG31762",
                    "type": "synonym"
                },
                {
                    "name": "CG6319",
                    "type": "synonym"
                },
                {
                    "name": "Dm Bru",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31762",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31762",
                    "type": "synonym"
                },
                {
                    "name": "NEST:bs01g04",
                    "type": "synonym"
                },
                {
                    "name": "NEST:bs34h11",
                    "type": "synonym"
                },
                {
                    "name": "aret/bruno1",
                    "type": "synonym"
                },
                {
                    "name": "aret",
                    "type": "synonym"
                },
                {
                    "name": "arrest/Bruno",
                    "type": "synonym"
                },
                {
                    "name": "bru-1",
                    "type": "synonym"
                },
                {
                    "name": "bru1",
                    "type": "synonym"
                },
                {
                    "name": "bruno1",
                    "type": "synonym"
                },
                {
                    "name": "bruno",
                    "type": "synonym"
                },
                {
                    "name": "bru",
                    "type": "synonym"
                },
                {
                    "name": "ms(2)01284",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IP90-1",
            "evidence": [
                {
                    "id": "0070383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E8R3-1",
            "uniprot_ac": "Q0E8R3",
            "uniprot_id": "Q0E8R3_DROME",
            "refseq_ac": "NP_001036356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bruno 2, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Bruno 2, isoform L",
                    "type": "synonym"
                },
                {
                    "name": "CG43065-PE",
                    "type": "synonym"
                },
                {
                    "name": "bru2-PE",
                    "type": "synonym"
                },
                {
                    "name": "bruno 2, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "bruno-2",
                    "type": "synonym"
                },
                {
                    "name": "bruno2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bru2",
                    "type": "recommended"
                },
                {
                    "name": "Bru-2",
                    "type": "synonym"
                },
                {
                    "name": "CG17008",
                    "type": "synonym"
                },
                {
                    "name": "CG31761",
                    "type": "synonym"
                },
                {
                    "name": "CG31763",
                    "type": "synonym"
                },
                {
                    "name": "CG43065",
                    "type": "synonym"
                },
                {
                    "name": "CG6319",
                    "type": "synonym"
                },
                {
                    "name": "Dm Bru-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43065",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43065",
                    "type": "synonym"
                },
                {
                    "name": "bru-2",
                    "type": "synonym"
                },
                {
                    "name": "bru2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E8R3-1",
            "evidence": [
                {
                    "id": "0070383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070383"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070383"
}