{
    "disease_id": "DOID:0112221",
    "recommended_name": {
        "id": "DOID:0112221",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112221",
        "name": "developmental and epileptic encephalopathy 87",
        "description": "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0112221",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112221",
            "name": "DEE87",
            "description": ""
        },
        {
            "id": "DOID:0112221",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112221",
            "name": "early infantile epileptic encephalopathy 87",
            "description": ""
        },
        {
            "id": "MONDO:0030059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030059",
            "name": "developmental and epileptic encephalopathy, 87",
            "description": ""
        },
        {
            "id": "MONDO:0030059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030059",
            "name": "DEE87",
            "description": ""
        },
        {
            "id": "MONDO:0030059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030059",
            "name": "EIEE87",
            "description": ""
        },
        {
            "id": "MONDO:0030059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030059",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87",
            "description": ""
        },
        {
            "id": "MONDO:0030059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030059",
            "name": "developmental and epileptic encephalopathy 87",
            "description": ""
        },
        {
            "id": "MONDO:0030059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030059",
            "name": "epileptic encephalopathy, early infantile, 87",
            "description": ""
        },
        {
            "id": "MIM:618916",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618916",
            "name": "Developmental and epileptic encephalopathy 87",
            "description": "Developmental and epileptic encephalopathy 87"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112221"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112221",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112221",
            "categories": []
        },
        {
            "id": "MONDO:0030059",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030059",
            "categories": []
        },
        {
            "id": "MIM:618916",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618916",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1QLR0-1",
            "uniprot_ac": "A0A8M1QLR0",
            "uniprot_id": "A0A8M1QLR0_DANRE",
            "refseq_ac": "XP_001923353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "cyclin-dependent kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 19 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdk19",
                    "type": "recommended"
                },
                {
                    "name": "cdk19",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1QLR0-1",
            "evidence": [
                {
                    "id": "0112221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8JH47-1",
            "uniprot_ac": "Q8JH47",
            "uniprot_id": "CDK8_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit cdk8",
                    "type": "synonym"
                },
                {
                    "name": "Mediator of RNA polymerase II transcription subunit cdk8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cdk8",
                    "type": "recommended"
                },
                {
                    "name": "wu:fk95h11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JH47-1",
            "evidence": [
                {
                    "id": "0112221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BWD8-1",
            "uniprot_ac": "Q8BWD8",
            "uniprot_id": "CDK19_MOUSE",
            "refseq_ac": "NP_001161776",
            "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 19",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "CDC2-related protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "Cell division cycle 2-like protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 19",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 2-like 6 (CDK8-like)",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 2-like protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 19",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase (CDC2-like) 11",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 11",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 19 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk19",
                    "type": "recommended"
                },
                {
                    "name": "2700084L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "CDK11",
                    "type": "synonym"
                },
                {
                    "name": "Cdc2l6",
                    "type": "synonym"
                },
                {
                    "name": "Cdk19",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1028",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1028",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BWD8-1",
            "evidence": [
                {
                    "id": "0112221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R3L8-1",
            "uniprot_ac": "Q8R3L8",
            "uniprot_id": "CDK8_MOUSE",
            "refseq_ac": "NP_705827",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit CDK8",
                    "type": "synonym"
                },
                {
                    "name": "Mediator of RNA polymerase II transcription subunit CDK8",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mediator complex subunit CDK8",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit CDK8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk8",
                    "type": "recommended"
                },
                {
                    "name": "Cdk8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R3L8-1",
            "evidence": [
                {
                    "id": "0112221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BWU1-1",
            "uniprot_ac": "Q9BWU1",
            "uniprot_id": "CDK19_HUMAN",
            "refseq_ac": "NP_001287889",
            "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 19",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "CDC2-related protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "CDK8-like cyclin-dependent kinase",
                    "type": "synonym"
                },
                {
                    "name": "Cell division cycle 2-like protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 19",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent kinase 11",
                    "type": "synonym"
                },
                {
                    "name": "Death-preventing kinase",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 2-like 6 (CDK8-like)",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 2-like protein kinase 6",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 19",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase (CDC2-like) 11",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 11",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 19 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "death-preventing kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDK19",
                    "type": "recommended"
                },
                {
                    "name": "CDC2L6",
                    "type": "synonym"
                },
                {
                    "name": "CDK11",
                    "type": "synonym"
                },
                {
                    "name": "CDK19",
                    "type": "synonym"
                },
                {
                    "name": "DEE87",
                    "type": "synonym"
                },
                {
                    "name": "EIEE87",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1028",
                    "type": "synonym"
                },
                {
                    "name": "bA346C16.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BWU1-1",
            "evidence": [
                {
                    "id": "618916",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618916"
                },
                {
                    "id": "0112221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39073-1",
            "uniprot_ac": "P39073",
            "uniprot_id": "SSN3_YEAST",
            "refseq_ac": "NP_015283",
            "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": "Meiotic mRNA stability protein kinase SSN3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of RNA polymerase B SRB10",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent serine/threonine protein kinase SSN3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SSN3",
                    "type": "recommended"
                },
                {
                    "name": "ARE1",
                    "type": "synonym"
                },
                {
                    "name": "CDK8",
                    "type": "synonym"
                },
                {
                    "name": "GIG2",
                    "type": "synonym"
                },
                {
                    "name": "NUT7",
                    "type": "synonym"
                },
                {
                    "name": "RYE5",
                    "type": "synonym"
                },
                {
                    "name": "SRB10",
                    "type": "synonym"
                },
                {
                    "name": "SSN3",
                    "type": "synonym"
                },
                {
                    "name": "SSX7",
                    "type": "synonym"
                },
                {
                    "name": "UME5",
                    "type": "synonym"
                },
                {
                    "name": "URR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P39073-1",
            "evidence": [
                {
                    "id": "0112221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZDM6-1",
            "uniprot_ac": "D3ZDM6",
            "uniprot_id": "D3ZDM6_RAT",
            "refseq_ac": "NP_001101104",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "cyclin-dependent kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "cell division cycle 2-like 6 (CDK8-like)",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 19",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase (CDC2-like) 11",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk19",
                    "type": "recommended"
                },
                {
                    "name": "Cdc2l6",
                    "type": "synonym"
                },
                {
                    "name": "Cdk11",
                    "type": "synonym"
                },
                {
                    "name": "Cdk19",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZDM6-1",
            "evidence": [
                {
                    "id": "0112221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZVW8-1",
            "uniprot_ac": "A0A8I5ZVW8",
            "uniprot_id": "A0A8I5ZVW8_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": "Cyclin-dependent kinase 8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
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                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk8",
                    "type": "recommended"
                },
                {
                    "name": "AABR07035338.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZVW8-1",
            "evidence": [
                {
                    "id": "0112221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VT57-1",
            "uniprot_ac": "Q9VT57",
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            "refseq_ac": "NP_536735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
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                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "CG10572-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cdk8-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-dependent kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "DmCdk8",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit Cdk8",
                    "type": "synonym"
                },
                {
                    "name": "Mediator of RNA polymerase II transcription subunit Cdk8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdk8",
                    "type": "recommended"
                },
                {
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Cdk8",
                    "type": "synonym"
                },
                {
                    "name": "DmCdk8",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10572",
                    "type": "synonym"
                },
                {
                    "name": "cdk8",
                    "type": "synonym"
                },
                {
                    "name": "dCdk8",
                    "type": "synonym"
                },
                {
                    "name": "dTRAP56",
                    "type": "synonym"
                },
                {
                    "name": "p58",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VT57-1",
            "evidence": [
                {
                    "id": "0112221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49336-1",
            "uniprot_ac": "P49336",
            "uniprot_id": "CDK8_HUMAN",
            "refseq_ac": "NP_001251",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.23",
                    "type": "synonym"
                },
                {
                    "name": "CDK8 protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "Mediator complex subunit CDK8",
                    "type": "synonym"
                },
                {
                    "name": "Mediator of RNA polymerase II transcription subunit CDK8",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase K35",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 8",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mediator complex subunit CDK8",
                    "type": "synonym"
                },
                {
                    "name": "mediator of RNA polymerase II transcription subunit CDK8",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase K35",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDK8",
                    "type": "recommended"
                },
                {
                    "name": "CDK8",
                    "type": "synonym"
                },
                {
                    "name": "IDDHBA",
                    "type": "synonym"
                },
                {
                    "name": "K35",
                    "type": "synonym"
                }
            ],
            "record_id": "P49336-1",
            "evidence": [
                {
                    "id": "0112221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112221"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112221"
}