{
    "disease_id": "DOID:0050993",
    "recommended_name": {
        "id": "DOID:0050993",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050993",
        "name": "episodic ataxia type 5",
        "description": "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0013464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "name": "episodic ataxia type 5",
            "description": "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours."
        },
        {
            "id": "MONDO:0013464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "name": "CACNB4 hereditary episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0013464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "name": "hereditary episodic ataxia caused by mutation in CACNB4",
            "description": ""
        },
        {
            "id": "MONDO:0013464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "name": "EA5",
            "description": ""
        },
        {
            "id": "MONDO:0013464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "name": "episodic ataxia, type 5",
            "description": ""
        },
        {
            "id": "MIM:613855",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613855",
            "name": "Episodic ataxia 5",
            "description": "Episodic ataxia 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050993"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050993",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050993",
            "categories": []
        },
        {
            "id": "MONDO:0013464",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013464",
            "categories": []
        },
        {
            "id": "MIM:613855",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613855",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R0S4-3",
            "uniprot_ac": "Q8R0S4",
            "uniprot_id": "CACB4_MOUSE",
            "refseq_ac": "NP_001032176",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit beta-4",
                    "type": "recommended"
                },
                {
                    "name": "CAB4",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel voltage-dependent subunit beta 4",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel voltage-dependent subunit beta 4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacnb4",
                    "type": "recommended"
                },
                {
                    "name": "3110038O15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cacnb4",
                    "type": "synonym"
                },
                {
                    "name": "Cacnlb4",
                    "type": "synonym"
                },
                {
                    "name": "Cchb4",
                    "type": "synonym"
                },
                {
                    "name": "lh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R0S4-3",
            "evidence": [
                {
                    "id": "0050993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050993"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00305-1",
            "uniprot_ac": "O00305",
            "uniprot_id": "CACB4_HUMAN",
            "refseq_ac": "NP_000717",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit beta-4",
                    "type": "recommended"
                },
                {
                    "name": "CAB4",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel voltage-dependent subunit beta 4",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel voltage-dependent subunit beta 4",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyridine-sensitive L-type, calcium channel beta-4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNB4",
                    "type": "recommended"
                },
                {
                    "name": "CAB4",
                    "type": "synonym"
                },
                {
                    "name": "CACNB4",
                    "type": "synonym"
                },
                {
                    "name": "CACNLB4",
                    "type": "synonym"
                },
                {
                    "name": "EA5",
                    "type": "synonym"
                },
                {
                    "name": "EIG9",
                    "type": "synonym"
                },
                {
                    "name": "EJM4",
                    "type": "synonym"
                },
                {
                    "name": "EJM6",
                    "type": "synonym"
                },
                {
                    "name": "EJM",
                    "type": "synonym"
                }
            ],
            "record_id": "O00305-1",
            "evidence": [
                {
                    "id": "613855",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613855"
                },
                {
                    "id": "0050993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050993"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A055-2",
            "uniprot_ac": "D4A055",
            "uniprot_id": "CACB4_RAT",
            "refseq_ac": "NP_001099203",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit beta-4",
                    "type": "recommended"
                },
                {
                    "name": "CAB4",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel voltage-dependent subunit beta 4",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel beta 4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel voltage-dependent subunit beta 4",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, beta 4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacnb4",
                    "type": "recommended"
                },
                {
                    "name": "CAB4",
                    "type": "synonym"
                },
                {
                    "name": "Cacnb4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A055-2",
            "evidence": [
                {
                    "id": "0050993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050993"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PD84-1",
            "uniprot_ac": "M9PD84",
            "uniprot_id": "M9PD84_DROME",
            "refseq_ac": "NP_001260375",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42403-PL",
                    "type": "synonym"
                },
                {
                    "name": "Ca-beta-PL",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+-channel-protein beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+-channel-protein-beta-subunit, isoform L",
                    "type": "synonym"
                },
                {
                    "name": "Ca[2+]-channel-protein-beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel beta",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 04008",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca-beta",
                    "type": "recommended"
                },
                {
                    "name": "2L5",
                    "type": "synonym"
                },
                {
                    "name": "CG14922",
                    "type": "synonym"
                },
                {
                    "name": "CG14923",
                    "type": "synonym"
                },
                {
                    "name": "CG33305",
                    "type": "synonym"
                },
                {
                    "name": "CG42403",
                    "type": "synonym"
                },
                {
                    "name": "CG6320",
                    "type": "synonym"
                },
                {
                    "name": "Ca-beta",
                    "type": "synonym"
                },
                {
                    "name": "CaBeta",
                    "type": "synonym"
                },
                {
                    "name": "DmCa1beta",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42403",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42403",
                    "type": "synonym"
                },
                {
                    "name": "ca-beta",
                    "type": "synonym"
                },
                {
                    "name": "dmcab1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04008",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PD84-1",
            "evidence": [
                {
                    "id": "0050993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050993"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050993"
}