{
    "disease_id": "DOID:0080452",
    "recommended_name": {
        "id": "DOID:0080452",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080452",
        "name": "developmental and epileptic encephalopathy 28",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080452",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080452",
            "name": "DEE28",
            "description": ""
        },
        {
            "id": "DOID:0080452",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080452",
            "name": "early infantile epileptic encephalopathy 28",
            "description": ""
        },
        {
            "id": "MONDO:0014533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "name": "developmental and epileptic encephalopathy, 28",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene."
        },
        {
            "id": "MONDO:0014533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "name": "DEE28",
            "description": ""
        },
        {
            "id": "MONDO:0014533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "name": "EIEE28",
            "description": ""
        },
        {
            "id": "MONDO:0014533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "name": "WOREE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "name": "WWOX early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "name": "WWOX-related epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "name": "developmental and epileptic encephalopathy 28",
            "description": ""
        },
        {
            "id": "MONDO:0014533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "name": "early infantile epileptic encephalopathy caused by mutation in WWOX",
            "description": ""
        },
        {
            "id": "MONDO:0014533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "name": "epileptic encephalopathy, early infantile, 28",
            "description": ""
        },
        {
            "id": "MONDO:0014533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "name": "epileptic encephalopathy, early infantile, type 28",
            "description": ""
        },
        {
            "id": "MIM:616211",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616211",
            "name": "Developmental and epileptic encephalopathy 28",
            "description": "Developmental and epileptic encephalopathy 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080452"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080452",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080452",
            "categories": []
        },
        {
            "id": "MONDO:0014533",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014533",
            "categories": []
        },
        {
            "id": "MIM:616211",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616211",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q803A8-1",
            "uniprot_ac": "Q803A8",
            "uniprot_id": "WWOX_DANRE",
            "refseq_ac": "NP_957207",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-containing oxidoreductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-containing oxidoreductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wwox",
                    "type": "recommended"
                },
                {
                    "name": "wwox",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55975",
                    "type": "synonym"
                }
            ],
            "record_id": "Q803A8-1",
            "evidence": [
                {
                    "id": "0080452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080452"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WL8-1",
            "uniprot_ac": "Q91WL8",
            "uniprot_id": "WWOX_MOUSE",
            "refseq_ac": "NP_062519",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-containing oxidoreductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-containing oxidoreductase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "WW-domain oxidoreductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wwox",
                    "type": "recommended"
                },
                {
                    "name": "5330426P09Rik",
                    "type": "synonym"
                },
                {
                    "name": "9030416C10Rik",
                    "type": "synonym"
                },
                {
                    "name": "WOX1",
                    "type": "synonym"
                },
                {
                    "name": "Wox1",
                    "type": "synonym"
                },
                {
                    "name": "Wwox",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WL8-1",
            "evidence": [
                {
                    "id": "0080452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080452"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZC7-1",
            "uniprot_ac": "Q9NZC7",
            "uniprot_id": "WWOX_HUMAN",
            "refseq_ac": "NP_001278926",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-containing oxidoreductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Fragile site FRA16D oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "Short chain dehydrogenase/reductase family 41C member 1",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-containing oxidoreductase isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-containing protein WWOX",
                    "type": "synonym"
                },
                {
                    "name": "fragile site FRA16D oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 41C member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WWOX",
                    "type": "recommended"
                },
                {
                    "name": "D16S432E",
                    "type": "synonym"
                },
                {
                    "name": "DEE28",
                    "type": "synonym"
                },
                {
                    "name": "EIEE28",
                    "type": "synonym"
                },
                {
                    "name": "FOR",
                    "type": "synonym"
                },
                {
                    "name": "FRA16D",
                    "type": "synonym"
                },
                {
                    "name": "HHCMA56",
                    "type": "synonym"
                },
                {
                    "name": "PRO0128",
                    "type": "synonym"
                },
                {
                    "name": "SCAR12",
                    "type": "synonym"
                },
                {
                    "name": "SDR41C1",
                    "type": "synonym"
                },
                {
                    "name": "WOX1",
                    "type": "synonym"
                },
                {
                    "name": "WWOX",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZC7-1",
            "evidence": [
                {
                    "id": "616211",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616211"
                },
                {
                    "id": "0080452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080452"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08651-1",
            "uniprot_ac": "Q08651",
            "uniprot_id": "ENV9_YEAST",
            "refseq_ac": "NP_014889",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable oxidoreductase ENV9",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Env9p",
                    "type": "synonym"
                },
                {
                    "name": "Late endosome and vacuole interface protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENV9",
                    "type": "recommended"
                },
                {
                    "name": "ENV9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08651-1",
            "evidence": [
                {
                    "id": "0080452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080452"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LQK5-1",
            "uniprot_ac": "A0ABK0LQK5",
            "uniprot_id": "A0ABK0LQK5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-containing oxidoreductase",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07043897.1",
                    "type": "recommended"
                },
                {
                    "name": "Wwox",
                    "type": "recommended"
                },
                {
                    "name": "AABR07043897.1",
                    "type": "synonym"
                },
                {
                    "name": "Wwox",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LQK5-1",
            "evidence": [
                {
                    "id": "0080452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080452"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLU5-1",
            "uniprot_ac": "Q9VLU5",
            "uniprot_id": "WWOX_DROME",
            "refseq_ac": "NP_001285735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-containing oxidoreductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG7221-PB",
                    "type": "synonym"
                },
                {
                    "name": "WW domain containing oxidoreductase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Wwox-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wwox",
                    "type": "recommended"
                },
                {
                    "name": "CG7221",
                    "type": "synonym"
                },
                {
                    "name": "DmWWOX",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7221",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7221",
                    "type": "synonym"
                },
                {
                    "name": "WWOX",
                    "type": "synonym"
                },
                {
                    "name": "Wwox",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey177",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLU5-1",
            "evidence": [
                {
                    "id": "0080452",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080452"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080452"
}