{
    "disease_id": "DOID:0081325",
    "recommended_name": {
        "id": "DOID:0081325",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081325",
        "name": "developmental and epileptic encephalopathy 94",
        "description": "A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0014150",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014150",
            "name": "developmental and epileptic encephalopathy 94",
            "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability."
        },
        {
            "id": "MONDO:0014150",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014150",
            "name": "DEE94",
            "description": ""
        },
        {
            "id": "MONDO:0014150",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014150",
            "name": "EEOC",
            "description": ""
        },
        {
            "id": "MONDO:0014150",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014150",
            "name": "childhood onset epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014150",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014150",
            "name": "developmental and epileptic encephalopathy 94",
            "description": ""
        },
        {
            "id": "MONDO:0014150",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014150",
            "name": "CHCHD10-related disorders",
            "description": ""
        },
        {
            "id": "MONDO:0014150",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014150",
            "name": "CHD2 myoclonic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014150",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014150",
            "name": "childhood-onset epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014150",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014150",
            "name": "epileptic encephalopathy, childhood-onset",
            "description": ""
        },
        {
            "id": "MIM:615369",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615369",
            "name": "Developmental and epileptic encephalopathy 94",
            "description": "Developmental and epileptic encephalopathy 94"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081325"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081325",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081325",
            "categories": []
        },
        {
            "id": "MONDO:0014150",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014150",
            "categories": []
        },
        {
            "id": "MIM:615369",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615369",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PQC3-1",
            "uniprot_ac": "A0A8M9PQC3",
            "uniprot_id": "A0A8M9PQC3_DANRE",
            "refseq_ac": "XP_021323365",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromodomain-helicase-DNA-binding protein 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "chromodomain-helicase-DNA-binding protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chd2",
                    "type": "recommended"
                },
                {
                    "name": "chd2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-196l7.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PQC3-1",
            "evidence": [
                {
                    "id": "0081325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PZM4-1",
            "uniprot_ac": "E9PZM4",
            "uniprot_id": "CHD2_MOUSE",
            "refseq_ac": "NP_001074814",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler CHD2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase CHD2",
                    "type": "synonym"
                },
                {
                    "name": "CHD-2",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "chromo domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chd2",
                    "type": "recommended"
                },
                {
                    "name": "2810013C04Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810040A01Rik",
                    "type": "synonym"
                },
                {
                    "name": "5630401D06Rik",
                    "type": "synonym"
                },
                {
                    "name": "CHD-2",
                    "type": "synonym"
                },
                {
                    "name": "Chd2",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PZM4-1",
            "evidence": [
                {
                    "id": "0081325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14647-1",
            "uniprot_ac": "O14647",
            "uniprot_id": "CHD2_HUMAN",
            "refseq_ac": "NP_001036037",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler CHD2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent chromatin remodeler CHD2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase CHD2",
                    "type": "synonym"
                },
                {
                    "name": "CHD-2",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "chromo domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHD2",
                    "type": "recommended"
                },
                {
                    "name": "CHD2",
                    "type": "synonym"
                },
                {
                    "name": "DEE94",
                    "type": "synonym"
                },
                {
                    "name": "EEOC",
                    "type": "synonym"
                }
            ],
            "record_id": "O14647-1",
            "evidence": [
                {
                    "id": "615369",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615369"
                },
                {
                    "id": "0081325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32657-1",
            "uniprot_ac": "P32657",
            "uniprot_id": "CHD1_YEAST",
            "refseq_ac": "NP_011091",
            "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": "ATP-dependent chromatin remodeler CHD1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Chromodomain helicase-like DNA-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-remodeling ATPase CHD1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHD1",
                    "type": "recommended"
                },
                {
                    "name": "CHD1",
                    "type": "synonym"
                },
                {
                    "name": "SYGP-ORF4",
                    "type": "synonym"
                }
            ],
            "record_id": "P32657-1",
            "evidence": [
                {
                    "id": "0081325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MJY0-1",
            "uniprot_ac": "A0A096MJY0",
            "uniprot_id": "A0A096MJY0_RAT",
            "refseq_ac": "NP_001100993",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromodomain helicase DNA binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "chromodomain-helicase-DNA-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chd2",
                    "type": "recommended"
                },
                {
                    "name": "Chd2",
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                }
            ],
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                {
                    "id": "0081325",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081325"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KU24-1",
            "uniprot_ac": "Q7KU24",
            "uniprot_id": "CHD1_DROME",
            "refseq_ac": "NP_477197",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent chromatin remodeler Chd1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3733-PA",
                    "type": "synonym"
                },
                {
                    "name": "Chd-1",
                    "type": "synonym"
                },
                {
                    "name": "Chd1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Chromo domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Chromodomain-helicase-DNA-binding protein 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Chromodomain-helicase-DNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "chromo-ATPase/helicase-DNA-binding domain",
                    "type": "synonym"
                },
                {
                    "name": "chromo-ATPase/helicase-DNA-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 23Cd",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chd1",
                    "type": "recommended"
                },
                {
                    "name": "2",
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                },
                {
                    "name": "CG3733",
                    "type": "synonym"
                },
                {
                    "name": "CHD-1",
                    "type": "synonym"
                },
                {
                    "name": "CHD1",
                    "type": "synonym"
                },
                {
                    "name": "Chd1",
                    "type": "synonym"
                },
                {
                    "name": "DmCHD1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3733",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3733",
                    "type": "synonym"
                },
                {
                    "name": "chd1",
                    "type": "synonym"
                },
                {
                    "name": "dCHD1",
                    "type": "synonym"
                },
                {
                    "name": "dChd1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)23Cd",
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                }
            ],
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                {
                    "id": "0081325",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081325"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081325"
}