{
    "disease_id": "DOID:0070395",
    "recommended_name": {
        "id": "DOID:0070395",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070395",
        "name": "developmental and epileptic encephalopathy 110",
        "description": "A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070395",
            "name": "DEE110",
            "description": ""
        },
        {
            "id": "DOID:0070395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070395",
            "name": "early infantile epileptic encephalopathy 110",
            "description": ""
        },
        {
            "id": "MONDO:0859327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859327",
            "name": "developmental and epileptic encephalopathy 110",
            "description": ""
        },
        {
            "id": "MIM:620149",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620149",
            "name": "Developmental and epileptic encephalopathy 110",
            "description": "Developmental and epileptic encephalopathy 110"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070395"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070395",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070395",
            "categories": []
        },
        {
            "id": "MONDO:0859327",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859327",
            "categories": []
        },
        {
            "id": "MIM:620149",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620149",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ARM5-1",
            "uniprot_ac": "A0A8M3ARM5",
            "uniprot_id": "A0A8M3ARM5_DANRE",
            "refseq_ac": "XP_009298561",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel subunit alpha-2/delta-1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel subunit alpha-2/delta-1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cacna2d1a",
                    "type": "recommended"
                },
                {
                    "name": "cacna2d1a",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-251k4.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ARM5-1",
            "evidence": [
                {
                    "id": "0070395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08532-1",
            "uniprot_ac": "O08532",
            "uniprot_id": "CA2D1_MOUSE",
            "refseq_ac": "NP_001104313",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel subunit alpha-2/delta-1",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha-2/delta-1",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyridine-sensitive calcium channel alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel alpha2/delta-1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel subunit alpha-2/delta-1 isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel subunit alpha-2/delta-1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha-2/delta-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna2d1",
                    "type": "recommended"
                },
                {
                    "name": "Ca(v)alpha2delta1",
                    "type": "synonym"
                },
                {
                    "name": "Cacna2d1",
                    "type": "synonym"
                },
                {
                    "name": "Cacna2",
                    "type": "synonym"
                },
                {
                    "name": "Cchl2a",
                    "type": "synonym"
                }
            ],
            "record_id": "O08532-1",
            "evidence": [
                {
                    "id": "0070395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54289-1",
            "uniprot_ac": "P54289",
            "uniprot_id": "CA2D1_HUMAN",
            "refseq_ac": "NP_000713",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel subunit alpha-2/delta-1",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha-2/delta-1",
                    "type": "synonym"
                },
                {
                    "name": "alpha2delta-1",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, L type, alpha 2 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, alpha 2/delta subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha-2/delta-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNA2D1",
                    "type": "recommended"
                },
                {
                    "name": "CACNA2D1",
                    "type": "synonym"
                },
                {
                    "name": "CACNA2",
                    "type": "synonym"
                },
                {
                    "name": "CACNL2A",
                    "type": "synonym"
                },
                {
                    "name": "CCHL2A",
                    "type": "synonym"
                },
                {
                    "name": "DEE110",
                    "type": "synonym"
                },
                {
                    "name": "LINC01112",
                    "type": "synonym"
                },
                {
                    "name": "MHS3",
                    "type": "synonym"
                },
                {
                    "name": "lncRNA-N3",
                    "type": "synonym"
                }
            ],
            "record_id": "P54289-1",
            "evidence": [
                {
                    "id": "620149",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620149"
                },
                {
                    "id": "0070395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54290-1",
            "uniprot_ac": "P54290",
            "uniprot_id": "CA2D1_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 calcium channel subunit alpha-2/delta-1",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha-2/delta-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna2d1",
                    "type": "recommended"
                },
                {
                    "name": "Cacnl2a",
                    "type": "synonym"
                },
                {
                    "name": "Cchl2a",
                    "type": "synonym"
                }
            ],
            "record_id": "P54290-1",
            "evidence": [
                {
                    "id": "0070395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2J9Z3-1",
            "uniprot_ac": "X2J9Z3",
            "uniprot_id": "X2J9Z3_DROME",
            "refseq_ac": "NP_001188817",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4587-PI",
                    "type": "synonym"
                },
                {
                    "name": "Stolid, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "Stolid, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "stol-PI",
                    "type": "synonym"
                },
                {
                    "name": "stolid, isoform I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stol",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS07108.2",
                    "type": "synonym"
                },
                {
                    "name": "CG4587",
                    "type": "synonym"
                },
                {
                    "name": "DS07108.2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4587",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4587",
                    "type": "synonym"
                },
                {
                    "name": "mdcds_3066",
                    "type": "synonym"
                },
                {
                    "name": "stol",
                    "type": "synonym"
                }
            ],
            "record_id": "X2J9Z3-1",
            "evidence": [
                {
                    "id": "0070395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IP22-1",
            "uniprot_ac": "Q8IP22",
            "uniprot_id": "Q8IP22_DROME",
            "refseq_ac": "NP_001260486",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42817-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ca-Ma2d-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ca[2+] channel Muscle-specific alpha2/delta subunit, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Ca[2+] channel Muscle-specific alpha2/delta subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific alpha2/delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca-Ma2d",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS07473.1",
                    "type": "synonym"
                },
                {
                    "name": "CG12455",
                    "type": "synonym"
                },
                {
                    "name": "CG42817",
                    "type": "synonym"
                },
                {
                    "name": "Ca-Ma2d",
                    "type": "synonym"
                },
                {
                    "name": "DS07473.1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42817",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42817",
                    "type": "synonym"
                },
                {
                    "name": "Ma2/d",
                    "type": "synonym"
                },
                {
                    "name": "alpha2delta-3",
                    "type": "synonym"
                },
                {
                    "name": "d",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IP22-1",
            "evidence": [
                {
                    "id": "0070395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070395"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070395"
}