{
    "disease_id": "DOID:0050973",
    "recommended_name": {
        "id": "DOID:0050973",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050973",
        "name": "spinocerebellar ataxia 23",
        "description": "An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012449",
            "name": "spinocerebellar ataxia type 23",
            "description": "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia."
        },
        {
            "id": "MONDO:0012449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012449",
            "name": "SCA23",
            "description": ""
        },
        {
            "id": "MONDO:0012449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012449",
            "name": "spinocerebellar ataxia type 23",
            "description": ""
        },
        {
            "id": "MONDO:0012449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012449",
            "name": "spinocerebellar ataxia 23",
            "description": ""
        },
        {
            "id": "MIM:610245",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610245",
            "name": "Spinocerebellar ataxia 23",
            "description": "Spinocerebellar ataxia 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050973"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050973",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050973",
            "categories": []
        },
        {
            "id": "MONDO:0012449",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012449",
            "categories": []
        },
        {
            "id": "MIM:610245",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610245",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B6F1-1",
            "uniprot_ac": "A0A8M3B6F1",
            "uniprot_id": "A0A8M3B6F1_DANRE",
            "refseq_ac": "XP_009295383",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proenkephalin-B",
                    "type": "recommended"
                },
                {
                    "name": "Beta-neoendorphin-dynorphin",
                    "type": "synonym"
                },
                {
                    "name": "Preprodynorphin",
                    "type": "synonym"
                },
                {
                    "name": "proenkephalin-B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pdyn",
                    "type": "recommended"
                },
                {
                    "name": "fj38c03",
                    "type": "synonym"
                },
                {
                    "name": "pdyn",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj38c03",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B6F1-1",
            "evidence": [
                {
                    "id": "0050973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050973"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35417-1",
            "uniprot_ac": "O35417",
            "uniprot_id": "PDYN_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proenkephalin-B",
                    "type": "recommended"
                },
                {
                    "name": "Beta-neoendorphin-dynorphin",
                    "type": "synonym"
                },
                {
                    "name": "Dyn-B",
                    "type": "synonym"
                },
                {
                    "name": "Dynorphin B(1-13)",
                    "type": "synonym"
                },
                {
                    "name": "Dynorphin B-29",
                    "type": "synonym"
                },
                {
                    "name": "Dynorphin B",
                    "type": "synonym"
                },
                {
                    "name": "Preprodynorphin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdyn",
                    "type": "recommended"
                }
            ],
            "record_id": "O35417-1",
            "evidence": [
                {
                    "id": "0050973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050973"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01213-1",
            "uniprot_ac": "P01213",
            "uniprot_id": "PDYN_HUMAN",
            "refseq_ac": "NP_001177821",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proenkephalin-B",
                    "type": "recommended"
                },
                {
                    "name": "Beta-neoendorphin-dynorphin",
                    "type": "synonym"
                },
                {
                    "name": "Dyn-B",
                    "type": "synonym"
                },
                {
                    "name": "Dynorphin B(1-13)",
                    "type": "synonym"
                },
                {
                    "name": "Dynorphin B-29",
                    "type": "synonym"
                },
                {
                    "name": "Dynorphin B",
                    "type": "synonym"
                },
                {
                    "name": "Preprodynorphin",
                    "type": "synonym"
                },
                {
                    "name": "beta-neoendorphin-dynorphin",
                    "type": "synonym"
                },
                {
                    "name": "leu-enkephalin",
                    "type": "synonym"
                },
                {
                    "name": "leumorphin",
                    "type": "synonym"
                },
                {
                    "name": "neoendorphin-dynorphin-enkephalin prepropeptide",
                    "type": "synonym"
                },
                {
                    "name": "preprodynorphin",
                    "type": "synonym"
                },
                {
                    "name": "preproenkephalin B",
                    "type": "synonym"
                },
                {
                    "name": "proenkephalin-B preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "proenkephalin-B",
                    "type": "synonym"
                },
                {
                    "name": "rimorphin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDYN",
                    "type": "recommended"
                },
                {
                    "name": "ADCA",
                    "type": "synonym"
                },
                {
                    "name": "PDYN",
                    "type": "synonym"
                },
                {
                    "name": "PENKB",
                    "type": "synonym"
                },
                {
                    "name": "SCA23",
                    "type": "synonym"
                }
            ],
            "record_id": "P01213-1",
            "evidence": [
                {
                    "id": "610245",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610245"
                },
                {
                    "id": "0050973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050973"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06300-1",
            "uniprot_ac": "P06300",
            "uniprot_id": "PDYN_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proenkephalin-B",
                    "type": "recommended"
                },
                {
                    "name": "Beta-neoendorphin-dynorphin",
                    "type": "synonym"
                },
                {
                    "name": "Dyn-B",
                    "type": "synonym"
                },
                {
                    "name": "Dynorphin B(1-13)",
                    "type": "synonym"
                },
                {
                    "name": "Dynorphin B-29",
                    "type": "synonym"
                },
                {
                    "name": "Dynorphin B",
                    "type": "synonym"
                },
                {
                    "name": "Preprodynorphin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdyn",
                    "type": "recommended"
                }
            ],
            "record_id": "P06300-1",
            "evidence": [
                {
                    "id": "0050973",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050973"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050973"
}