{
    "disease_id": "DOID:0111742",
    "recommended_name": {
        "id": "DOID:0111742",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111742",
        "name": "cerebellar ataxia type 42",
        "description": "An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0111742",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111742",
            "name": "SCA42",
            "description": ""
        },
        {
            "id": "MONDO:0014776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014776",
            "name": "spinocerebellar ataxia type 42",
            "description": ""
        },
        {
            "id": "MONDO:0014776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014776",
            "name": "SCA42",
            "description": ""
        },
        {
            "id": "MONDO:0014776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014776",
            "name": "spinocerebellar ataxia 42",
            "description": ""
        },
        {
            "id": "MONDO:0014776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014776",
            "name": "spinocerebellar ataxia type 42",
            "description": ""
        },
        {
            "id": "MIM:616795",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616795",
            "name": "Spinocerebellar ataxia 42",
            "description": "Spinocerebellar ataxia 42"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111742"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111742",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111742",
            "categories": []
        },
        {
            "id": "MONDO:0014776",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014776",
            "categories": []
        },
        {
            "id": "MIM:616795",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616795",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5SUF7-1",
            "uniprot_ac": "Q5SUF7",
            "uniprot_id": "Q5SUF7_MOUSE",
            "refseq_ac": "XP_006532133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent T-type calcium channel subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "voltage-dependent T-type calcium channel subunit alpha-1G isoform X4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1g",
                    "type": "recommended"
                },
                {
                    "name": "Cacna1g",
                    "type": "synonym"
                },
                {
                    "name": "Cav3.1d",
                    "type": "synonym"
                },
                {
                    "name": "[a]1G",
                    "type": "synonym"
                },
                {
                    "name": "a1G",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1G",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1123",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SUF7-1",
            "evidence": [
                {
                    "id": "0111742",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111742"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43497-1",
            "uniprot_ac": "O43497",
            "uniprot_id": "CAC1G_HUMAN",
            "refseq_ac": "NP_001243253",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent T-type calcium channel subunit alpha-1G",
                    "type": "recommended"
                },
                {
                    "name": "Cav3.1c",
                    "type": "synonym"
                },
                {
                    "name": "NBR13",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav3.1",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, T type, alpha 1G subunit",
                    "type": "synonym"
                },
                {
                    "name": "cav3.1c",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent T-type calcium channel alpha 1G subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent T-type calcium channel subunit alpha-1G isoform 16",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel alpha 1G subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha Cav3.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNA1G",
                    "type": "recommended"
                },
                {
                    "name": "CACNA1G",
                    "type": "synonym"
                },
                {
                    "name": "Ca(V)T.1",
                    "type": "synonym"
                },
                {
                    "name": "Cav3.1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1123",
                    "type": "synonym"
                },
                {
                    "name": "NBR13",
                    "type": "synonym"
                },
                {
                    "name": "SCA42ND",
                    "type": "synonym"
                },
                {
                    "name": "SCA42",
                    "type": "synonym"
                }
            ],
            "record_id": "O43497-1",
            "evidence": [
                {
                    "id": "616795",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616795"
                },
                {
                    "id": "0111742",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111742"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54898-1",
            "uniprot_ac": "O54898",
            "uniprot_id": "CAC1G_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 T-type calcium channel subunit alpha-1G",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav3.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1g",
                    "type": "recommended"
                }
            ],
            "record_id": "O54898-1",
            "evidence": [
                {
                    "id": "0111742",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111742"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PGH9-1",
            "uniprot_ac": "M9PGH9",
            "uniprot_id": "M9PGH9_DROME",
            "refseq_ac": "NP_001259267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG15899-PF",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alpha1T-PF",
                    "type": "synonym"
                },
                {
                    "name": "Ca1G",
                    "type": "synonym"
                },
                {
                    "name": "Ca[2+]-channel protein alpha[[1]] subunit T, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ca-alpha1T",
                    "type": "recommended"
                },
                {
                    "name": "CG12544",
                    "type": "synonym"
                },
                {
                    "name": "CG15899",
                    "type": "synonym"
                },
                {
                    "name": "CG4222",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alpha1T",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alphaT-RC",
                    "type": "synonym"
                },
                {
                    "name": "Ca1G",
                    "type": "synonym"
                },
                {
                    "name": "Caalpha1T",
                    "type": "synonym"
                },
                {
                    "name": "DmalphaG",
                    "type": "synonym"
                },
                {
                    "name": "Dmca1G",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15899",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15899",
                    "type": "synonym"
                },
                {
                    "name": "T-type Ca[2+]",
                    "type": "synonym"
                },
                {
                    "name": "alpha1T",
                    "type": "synonym"
                },
                {
                    "name": "alphaIT",
                    "type": "synonym"
                },
                {
                    "name": "ca-alpha1T",
                    "type": "synonym"
                },
                {
                    "name": "cat",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PGH9-1",
            "evidence": [
                {
                    "id": "0111742",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111742"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111742"
}