{
    "disease_id": "DOID:0080467",
    "recommended_name": {
        "id": "DOID:0080467",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080467",
        "name": "developmental and epileptic encephalopathy 2",
        "description": "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0080467",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080467",
            "name": "X-linked infantile spasm syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0080467",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080467",
            "name": "DEE2",
            "description": ""
        },
        {
            "id": "DOID:0080467",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080467",
            "name": "EIEE2",
            "description": ""
        },
        {
            "id": "DOID:0080467",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080467",
            "name": "early infantile epileptic encephalopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "developmental and epileptic encephalopathy, 2",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene."
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "CDKL5 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "DEE2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "EIEE2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "developmental and epileptic encephalopathy 2, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "developmental and epileptic encephalopathy, 2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "early infantile epileptic encephalopathy caused by mutation in CDKL5",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "epileptic encephalopathy, early infantile, 2",
            "description": ""
        },
        {
            "id": "MONDO:0010396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "name": "epileptic encephalopathy, early infantile, type 2",
            "description": ""
        },
        {
            "id": "MIM:300672",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300672",
            "name": "Developmental and epileptic encephalopathy 2",
            "description": "Developmental and epileptic encephalopathy 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080467"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080467",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080467",
            "categories": []
        },
        {
            "id": "MONDO:0010396",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010396",
            "categories": []
        },
        {
            "id": "MIM:300672",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300672",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UTQ8-1",
            "uniprot_ac": "Q3UTQ8",
            "uniprot_id": "CDKL5_MOUSE",
            "refseq_ac": "NP_001019795",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase-like 5",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase-like 5 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine kinase 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdkl5",
                    "type": "recommended"
                },
                {
                    "name": "Cdkl5",
                    "type": "synonym"
                },
                {
                    "name": "Stk9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UTQ8-1",
            "evidence": [
                {
                    "id": "0080467",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080467"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76039-2",
            "uniprot_ac": "O76039",
            "uniprot_id": "CDKL5_HUMAN",
            "refseq_ac": "NP_001032420",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase-like 5",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "cyclin dependent kinase 5 transcript",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase-like 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine kinase 9",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDKL5",
                    "type": "recommended"
                },
                {
                    "name": "CDKL5",
                    "type": "synonym"
                },
                {
                    "name": "CFAP247",
                    "type": "synonym"
                },
                {
                    "name": "DEE2",
                    "type": "synonym"
                },
                {
                    "name": "EIEE2",
                    "type": "synonym"
                },
                {
                    "name": "ISSX",
                    "type": "synonym"
                },
                {
                    "name": "STK9",
                    "type": "synonym"
                }
            ],
            "record_id": "O76039-2",
            "evidence": [
                {
                    "id": "300672",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300672"
                },
                {
                    "id": "0080467",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080467"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12222-1",
            "uniprot_ac": "Q12222",
            "uniprot_id": "YGK3_YEAST",
            "refseq_ac": "NP_014513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycogen synthase kinase-3 homolog YGK3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase YGK3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YGK3",
                    "type": "recommended"
                },
                {
                    "name": "YGK3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12222-1",
            "evidence": [
                {
                    "id": "0080467",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080467"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LCR6-1",
            "uniprot_ac": "A0ABK0LCR6",
            "uniprot_id": "A0ABK0LCR6_RAT",
            "refseq_ac": "NP_001408462",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase-like 5",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase-like 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdkl5",
                    "type": "recommended"
                },
                {
                    "name": "Cdkl5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LCR6-1",
            "evidence": [
                {
                    "id": "0080467",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080467"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080467"
}