{
    "disease_id": "DOID:0112205",
    "recommended_name": {
        "id": "DOID:0112205",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112205",
        "name": "developmental and epileptic encephalopathy 69",
        "description": "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112205",
            "name": "DEE69",
            "description": ""
        },
        {
            "id": "DOID:0112205",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112205",
            "name": "early infantile epileptic encephalopathy 69",
            "description": ""
        },
        {
            "id": "MONDO:0032657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032657",
            "name": "developmental and epileptic encephalopathy, 69",
            "description": ""
        },
        {
            "id": "MONDO:0032657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032657",
            "name": "DEE69",
            "description": ""
        },
        {
            "id": "MONDO:0032657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032657",
            "name": "EIEE69",
            "description": ""
        },
        {
            "id": "MONDO:0032657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032657",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69",
            "description": ""
        },
        {
            "id": "MONDO:0032657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032657",
            "name": "developmental and epileptic encephalopathy 69",
            "description": ""
        },
        {
            "id": "MONDO:0032657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032657",
            "name": "epileptic encephalopathy, early infantile, 69",
            "description": ""
        },
        {
            "id": "MIM:618285",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618285",
            "name": "Developmental and epileptic encephalopathy 69",
            "description": "Developmental and epileptic encephalopathy 69"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112205"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112205",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112205",
            "categories": []
        },
        {
            "id": "MONDO:0032657",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032657",
            "categories": []
        },
        {
            "id": "MIM:618285",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618285",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB40E8N7-1",
            "uniprot_ac": "A0AB40E8N7",
            "uniprot_id": "A0AB40E8N7_DANRE",
            "refseq_ac": "XP_017206700",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent R-type calcium channel subunit alpha-1E",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent R-type calcium channel subunit alpha-1E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cacna1eb",
                    "type": "recommended"
                },
                {
                    "name": "cacna1eb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB40E8N7-1",
            "evidence": [
                {
                    "id": "0112205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61290-1",
            "uniprot_ac": "Q61290",
            "uniprot_id": "CAC1E_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent R-type calcium channel subunit alpha-1E",
                    "type": "recommended"
                },
                {
                    "name": "BII",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel II",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 6",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1e",
                    "type": "recommended"
                },
                {
                    "name": "Cach6",
                    "type": "synonym"
                },
                {
                    "name": "Cacnl1a6",
                    "type": "synonym"
                },
                {
                    "name": "Cchra1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61290-1",
            "evidence": [
                {
                    "id": "0112205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15878-1",
            "uniprot_ac": "Q15878",
            "uniprot_id": "CAC1E_HUMAN",
            "refseq_ac": "NP_000712",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent R-type calcium channel subunit alpha-1E",
                    "type": "recommended"
                },
                {
                    "name": "BII",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel II",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 6",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.3",
                    "type": "synonym"
                },
                {
                    "name": "brain calcium channel II",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, L type, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, R type, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent R-type calcium channel subunit alpha-1E isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent R-type calcium channel subunit alpha-1E",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel alpha 1E subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel alpha subunit Cav2.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNA1E",
                    "type": "recommended"
                },
                {
                    "name": "BII",
                    "type": "synonym"
                },
                {
                    "name": "CACH6",
                    "type": "synonym"
                },
                {
                    "name": "CACNA1E",
                    "type": "synonym"
                },
                {
                    "name": "CACNL1A6",
                    "type": "synonym"
                },
                {
                    "name": "Cav2.3",
                    "type": "synonym"
                },
                {
                    "name": "DEE69",
                    "type": "synonym"
                },
                {
                    "name": "EIEE69",
                    "type": "synonym"
                },
                {
                    "name": "gm139",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15878-1",
            "evidence": [
                {
                    "id": "618285",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618285"
                },
                {
                    "id": "0112205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07652-1",
            "uniprot_ac": "Q07652",
            "uniprot_id": "CAC1E_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent R-type calcium channel subunit alpha-1E",
                    "type": "recommended"
                },
                {
                    "name": "BII",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel II",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 6",
                    "type": "synonym"
                },
                {
                    "name": "RBE-II",
                    "type": "synonym"
                },
                {
                    "name": "RBE2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1e",
                    "type": "recommended"
                },
                {
                    "name": "Cach6",
                    "type": "synonym"
                },
                {
                    "name": "Cacnl1a6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07652-1",
            "evidence": [
                {
                    "id": "0112205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112205"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P91645-1",
            "uniprot_ac": "P91645",
            "uniprot_id": "CAC1A_DROME",
            "refseq_ac": "NP_001245639",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel type A subunit alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "CG43368-PO",
                    "type": "synonym"
                },
                {
                    "name": "Dmca1A",
                    "type": "synonym"
                },
                {
                    "name": "Protein cacophony",
                    "type": "synonym"
                },
                {
                    "name": "Protein nightblind A",
                    "type": "synonym"
                },
                {
                    "name": "Protein no-on-transient B",
                    "type": "synonym"
                },
                {
                    "name": "cac-PO",
                    "type": "synonym"
                },
                {
                    "name": "cacaphony",
                    "type": "synonym"
                },
                {
                    "name": "cacophany",
                    "type": "synonym"
                },
                {
                    "name": "cacophony, isoform O",
                    "type": "synonym"
                },
                {
                    "name": "cacophony",
                    "type": "synonym"
                },
                {
                    "name": "cactus",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel alpha1 subunit, type A",
                    "type": "synonym"
                },
                {
                    "name": "lamina-degeneration",
                    "type": "synonym"
                },
                {
                    "name": "lethal(1)11Aa",
                    "type": "synonym"
                },
                {
                    "name": "night blind A",
                    "type": "synonym"
                },
                {
                    "name": "nightblind A",
                    "type": "synonym"
                },
                {
                    "name": "no-on-transient B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cac",
                    "type": "recommended"
                },
                {
                    "name": "13",
                    "type": "synonym"
                },
                {
                    "name": "CAC",
                    "type": "synonym"
                },
                {
                    "name": "CG1522",
                    "type": "synonym"
                },
                {
                    "name": "CG15928",
                    "type": "synonym"
                },
                {
                    "name": "CG43368",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alpha1A",
                    "type": "synonym"
                },
                {
                    "name": "Ca[[V]]2.1",
                    "type": "synonym"
                },
                {
                    "name": "Cac1",
                    "type": "synonym"
                },
                {
                    "name": "Cactus",
                    "type": "synonym"
                },
                {
                    "name": "Cac",
                    "type": "synonym"
                },
                {
                    "name": "DMCA1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmca1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmcalpha1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43368",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43368",
                    "type": "synonym"
                },
                {
                    "name": "EE171",
                    "type": "synonym"
                },
                {
                    "name": "H18",
                    "type": "synonym"
                },
                {
                    "name": "H47",
                    "type": "synonym"
                },
                {
                    "name": "L13",
                    "type": "synonym"
                },
                {
                    "name": "P18",
                    "type": "synonym"
                },
                {
                    "name": "alpha1A",
                    "type": "synonym"
                },
                {
                    "name": "cac1",
                    "type": "synonym"
                },
                {
                    "name": "cactus",
                    "type": "synonym"
                },
                {
                    "name": "cact",
                    "type": "synonym"
                },
                {
                    "name": "cac",
                    "type": "synonym"
                },
                {
                    "name": "can",
                    "type": "synonym"
                },
                {
                    "name": "dCac1",
                    "type": "synonym"
                },
                {
                    "name": "dmca1A",
                    "type": "synonym"
                },
                {
                    "name": "l(1)11Aa",
                    "type": "synonym"
                },
                {
                    "name": "l(1)13",
                    "type": "synonym"
                },
                {
                    "name": "l(1)L13",
                    "type": "synonym"
                },
                {
                    "name": "ldg",
                    "type": "synonym"
                },
                {
                    "name": "nbA",
                    "type": "synonym"
                },
                {
                    "name": "nonB",
                    "type": "synonym"
                },
                {
                    "name": "opm18",
                    "type": "synonym"
                },
                {
                    "name": "opm47",
                    "type": "synonym"
                }
            ],
            "record_id": "P91645-1",
            "evidence": [
                {
                    "id": "0112205",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112205"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112205"
}