{
    "disease_id": "DOID:0111829",
    "recommended_name": {
        "id": "DOID:0111829",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111829",
        "name": "X-linked spinocerebellar ataxia 1",
        "description": "An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111829",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111829",
            "name": "SCAX1",
            "description": ""
        },
        {
            "id": "DOID:0111829",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111829",
            "name": "X-linked progressive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010547",
            "name": "X-linked progressive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010547",
            "name": "spinocerebellar ataxia, X-linked 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010547",
            "name": "spinocerebellar ataxia, X-linked type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010547",
            "name": "SCAX1",
            "description": ""
        },
        {
            "id": "MONDO:0010547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010547",
            "name": "spinocerebellar ataxia, X-linked 1",
            "description": ""
        },
        {
            "id": "MIM:302500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/302500",
            "name": "Spinocerebellar ataxia, X-linked 1",
            "description": "Spinocerebellar ataxia, X-linked 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111829"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111829",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111829",
            "categories": []
        },
        {
            "id": "MONDO:0010547",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010547",
            "categories": []
        },
        {
            "id": "MIM:302500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/302500",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "A0A8M2BEB4-1",
            "uniprot_ac": "A0A8M2BEB4",
            "uniprot_id": "A0A8M2BEB4_DANRE",
            "refseq_ac": "XP_005166875",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 3a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp2b3a",
                    "type": "recommended"
                },
                {
                    "name": "atp2b3a",
                    "type": "synonym"
                },
                {
                    "name": "atp2b3",
                    "type": "synonym"
                },
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                    "name": "pmca3a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk54d07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92885",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111829",
                    "database": "AGR",
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                }
            ]
        },
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                }
            ],
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                {
                    "name": "Calcium-transporting ATPase",
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                },
                {
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                }
            ],
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            ],
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16720-1",
            "uniprot_ac": "Q16720",
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            "refseq_ac": "NP_001001344",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                {
                    "name": "Plasma membrane calcium-transporting ATPase 3",
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                },
                {
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                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "PMCA3",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium pump isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "cilia and flagella associated protein 39",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium pump",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 3 isoform 3b",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP2B3",
                    "type": "recommended"
                },
                {
                    "name": "ATP2B3",
                    "type": "synonym"
                },
                {
                    "name": "CFAP39",
                    "type": "synonym"
                },
                {
                    "name": "CLA2",
                    "type": "synonym"
                },
                {
                    "name": "OPCA",
                    "type": "synonym"
                },
                {
                    "name": "PMCA3a",
                    "type": "synonym"
                },
                {
                    "name": "PMCA3",
                    "type": "synonym"
                },
                {
                    "name": "SCAX1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16720-1",
            "evidence": [
                {
                    "id": "302500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/302500"
                },
                {
                    "id": "0111829",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111829"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38929-1",
            "uniprot_ac": "P38929",
            "uniprot_id": "ATC2_YEAST",
            "refseq_ac": "NP_011509",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-transporting ATPase 2",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar Ca(2+)-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "calcium-transporting ATPase PMC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMC1",
                    "type": "recommended"
                },
                {
                    "name": "PMC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38929-1",
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                {
                    "id": "0111829",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111829"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64568-1",
            "uniprot_ac": "Q64568",
            "uniprot_id": "AT2B3_RAT",
            "refseq_ac": "NP_579822",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plasma membrane calcium-transporting ATPase 3",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Ca++ transporting, plasma membrane 3",
                    "type": "synonym"
                },
                {
                    "name": "PMCA3",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium ATPase isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "Plasma membrane calcium pump isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium ATPase",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium pump",
                    "type": "synonym"
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                {
                    "name": "plasma membrane calcium-transporting ATPase 3 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane calcium-transporting ATPase 3",
                    "type": "synonym"
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            ],
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                {
                    "name": "Atp2b3",
                    "type": "recommended"
                },
                {
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                },
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                    "id": "0111829",
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                }
            ]
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            "uniprot_canonical_ac": "Q59DP9-1",
            "uniprot_ac": "Q59DP9",
            "uniprot_id": "Q59DP9_DROME",
            "refseq_ac": "NP_001014689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.10",
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                {
                    "name": "CG42314-PM",
                    "type": "synonym"
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                {
                    "name": "PMCA-PM",
                    "type": "synonym"
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                {
                    "name": "plasma membrane Ca2+ ATPase",
                    "type": "synonym"
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                {
                    "name": "plasma membrane Ca[2+] ATPase",
                    "type": "synonym"
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                {
                    "name": "plasma membrane calcium ATPase, isoform M",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMCA",
                    "type": "recommended"
                },
                {
                    "name": "BEST:CK01140",
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                },
                {
                    "name": "BEST:CK02288",
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                {
                    "name": "BEST:CK",
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                {
                    "name": "BP1021",
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                {
                    "name": "CG2165",
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                {
                    "name": "CG34036",
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                {
                    "name": "CG42314",
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                    "name": "CK02288",
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                {
                    "name": "Dmel\\CG42314",
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                {
                    "name": "Dmel_CG42314",
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                    "name": "PMCA",
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                    "id": "0111829",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111829"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111829"
}