{
    "disease_id": "DOID:0111744",
    "recommended_name": {
        "id": "DOID:0111744",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111744",
        "name": "cerebellar ataxia type 41",
        "description": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27."
    },
    "synonyms": [
        {
            "id": "DOID:0111744",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111744",
            "name": "SCA41",
            "description": ""
        },
        {
            "id": "MONDO:0014626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014626",
            "name": "spinocerebellar ataxia type 41",
            "description": "Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging."
        },
        {
            "id": "MONDO:0014626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014626",
            "name": "SCA41",
            "description": ""
        },
        {
            "id": "MONDO:0014626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014626",
            "name": "spinocerebellar ataxia type 41",
            "description": ""
        },
        {
            "id": "MONDO:0014626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014626",
            "name": "spinocerebellar ataxia 41",
            "description": ""
        },
        {
            "id": "MIM:616410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616410",
            "name": "Spinocerebellar ataxia 41",
            "description": "Spinocerebellar ataxia 41"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111744"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111744",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111744",
            "categories": []
        },
        {
            "id": "MONDO:0014626",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014626",
            "categories": []
        },
        {
            "id": "MIM:616410",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616410",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P0G4-1",
            "uniprot_ac": "A0A8M1P0G4",
            "uniprot_id": "A0A8M1P0G4_DANRE",
            "refseq_ac": "NP_001276813",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short transient receptor potential channel 3",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 3-like",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpc3",
                    "type": "recommended"
                },
                {
                    "name": "trpc3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P0G4-1",
            "evidence": [
                {
                    "id": "0111744",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111744"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZC1-1",
            "uniprot_ac": "Q9QZC1",
            "uniprot_id": "TRPC3_MOUSE",
            "refseq_ac": "NP_062383",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short transient receptor potential channel 3",
                    "type": "recommended"
                },
                {
                    "name": "Receptor-activated cation channel TRP3",
                    "type": "synonym"
                },
                {
                    "name": "TRP-3",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Trp-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "TrpC3",
                    "type": "synonym"
                },
                {
                    "name": "mTrp3",
                    "type": "synonym"
                },
                {
                    "name": "receptor-activated cation channel TRP3",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 3",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor protein 3",
                    "type": "synonym"
                },
                {
                    "name": "trp-related protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpc3",
                    "type": "recommended"
                },
                {
                    "name": "Mwk",
                    "type": "synonym"
                },
                {
                    "name": "Trcp3",
                    "type": "synonym"
                },
                {
                    "name": "Trp3",
                    "type": "synonym"
                },
                {
                    "name": "Trpc3",
                    "type": "synonym"
                },
                {
                    "name": "Trrp3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZC1-1",
            "evidence": [
                {
                    "id": "0111744",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111744"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13507-2",
            "uniprot_ac": "Q13507",
            "uniprot_id": "TRPC3_HUMAN",
            "refseq_ac": "NP_001124170",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short transient receptor potential channel 3",
                    "type": "recommended"
                },
                {
                    "name": "TRP-3",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor protein 3",
                    "type": "synonym"
                },
                {
                    "name": "TrpC3",
                    "type": "synonym"
                },
                {
                    "name": "hTrp-3",
                    "type": "synonym"
                },
                {
                    "name": "hTrp3",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 3",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPC3",
                    "type": "recommended"
                },
                {
                    "name": "SCA41",
                    "type": "synonym"
                },
                {
                    "name": "TRP3",
                    "type": "synonym"
                },
                {
                    "name": "TRPC3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13507-2",
            "evidence": [
                {
                    "id": "616410",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616410"
                },
                {
                    "id": "0111744",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111744"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JMI9-1",
            "uniprot_ac": "Q9JMI9",
            "uniprot_id": "TRPC3_RAT",
            "refseq_ac": "NP_001401934",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Short transient receptor potential channel 3",
                    "type": "recommended"
                },
                {
                    "name": "Trp-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "TrpC3",
                    "type": "synonym"
                },
                {
                    "name": "ion channel protein",
                    "type": "synonym"
                },
                {
                    "name": "short transient receptor potential channel 3",
                    "type": "synonym"
                },
                {
                    "name": "trp-related protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpc3",
                    "type": "recommended"
                },
                {
                    "name": "TrpC3c",
                    "type": "synonym"
                },
                {
                    "name": "Trpc3",
                    "type": "synonym"
                },
                {
                    "name": "Trrp3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JMI9-1",
            "evidence": [
                {
                    "id": "0111744",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111744"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111744"
}