{
    "disease_id": "DOID:0080288",
    "recommended_name": {
        "id": "DOID:0080288",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080288",
        "name": "spinocerebellar ataxia 46",
        "description": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0033481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033481",
            "name": "spinocerebellar ataxia 46",
            "description": ""
        },
        {
            "id": "MONDO:0033481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033481",
            "name": "spinocerebellar ataxia 46",
            "description": ""
        },
        {
            "id": "MONDO:0033481",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033481",
            "name": "SCA46",
            "description": ""
        },
        {
            "id": "MIM:617770",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617770",
            "name": "Spinocerebellar ataxia 46",
            "description": "Spinocerebellar ataxia 46"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080288"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080288",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080288",
            "categories": []
        },
        {
            "id": "MONDO:0033481",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033481",
            "categories": []
        },
        {
            "id": "MIM:617770",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617770",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L8A0-1",
            "uniprot_ac": "Q1L8A0",
            "uniprot_id": "Q1L8A0_DANRE",
            "refseq_ac": "XP_003200538",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "5'-3' exonuclease PLD3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.16.1",
                    "type": "synonym"
                },
                {
                    "name": "5'-3' exonuclease PLD3",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase D3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pld3",
                    "type": "recommended"
                },
                {
                    "name": "pld3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8A0-1",
            "evidence": [
                {
                    "id": "0080288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35405-1",
            "uniprot_ac": "O35405",
            "uniprot_id": "PLD3_MOUSE",
            "refseq_ac": "NP_001304284",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "5'-3' exonuclease PLD3",
                    "type": "recommended"
                },
                {
                    "name": "(S,S)-bis(monoacylglycero)phosphate synthase PLD3",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.16.1",
                    "type": "synonym"
                },
                {
                    "name": "5'-3' exonuclease PLD3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "5'-3' exonuclease PLD3",
                    "type": "synonym"
                },
                {
                    "name": "PLD 3",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase D3",
                    "type": "synonym"
                },
                {
                    "name": "SAM-9",
                    "type": "synonym"
                },
                {
                    "name": "Schwannoma-associated protein 9",
                    "type": "synonym"
                },
                {
                    "name": "choline phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine-hydrolyzing phospholipase D3",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase D3",
                    "type": "synonym"
                },
                {
                    "name": "schwannoma-associated protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pld3",
                    "type": "recommended"
                },
                {
                    "name": "Pld3",
                    "type": "synonym"
                },
                {
                    "name": "Sam-9",
                    "type": "synonym"
                },
                {
                    "name": "Sam9",
                    "type": "synonym"
                }
            ],
            "record_id": "O35405-1",
            "evidence": [
                {
                    "id": "0080288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IV08-1",
            "uniprot_ac": "Q8IV08",
            "uniprot_id": "PLD3_HUMAN",
            "refseq_ac": "NP_001026866",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "5'-3' exonuclease PLD3",
                    "type": "recommended"
                },
                {
                    "name": "(S,S)-bis(monoacylglycero)phosphate synthase PLD3",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.16.1",
                    "type": "synonym"
                },
                {
                    "name": "5'-3' exonuclease PLD3",
                    "type": "synonym"
                },
                {
                    "name": "HindIII K4L homolog",
                    "type": "synonym"
                },
                {
                    "name": "Hu-K4",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase D3",
                    "type": "synonym"
                },
                {
                    "name": "choline phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "hindIII K4L homolog",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine-hydrolyzing phospholipase D3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLD3",
                    "type": "recommended"
                },
                {
                    "name": "AD19",
                    "type": "synonym"
                },
                {
                    "name": "HU-K4",
                    "type": "synonym"
                },
                {
                    "name": "HUK4",
                    "type": "synonym"
                },
                {
                    "name": "PLD3",
                    "type": "synonym"
                },
                {
                    "name": "SCA46",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IV08-1",
            "evidence": [
                {
                    "id": "617770",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617770"
                },
                {
                    "id": "0080288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8G1-1",
            "uniprot_ac": "D3Z8G1",
            "uniprot_id": "D3Z8G1_RAT",
            "refseq_ac": "NP_001000662",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Olfactory receptor",
                    "type": "recommended"
                },
                {
                    "name": "olfactory receptor 582",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor Olr582",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor gene Olr582",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Or5w13b",
                    "type": "recommended"
                },
                {
                    "name": "Olr582",
                    "type": "synonym"
                },
                {
                    "name": "Or5w13b",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8G1-1",
            "evidence": [
                {
                    "id": "0080288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FVH2-1",
            "uniprot_ac": "Q5FVH2",
            "uniprot_id": "PLD3_RAT",
            "refseq_ac": "NP_001012167",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "5'-3' exonuclease PLD3",
                    "type": "recommended"
                },
                {
                    "name": "(S,S)-bis(monoacylglycero)phosphate synthase PLD3",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.16.1",
                    "type": "synonym"
                },
                {
                    "name": "5'-3' exonuclease PLD3",
                    "type": "synonym"
                },
                {
                    "name": "PLD 3",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase D3",
                    "type": "synonym"
                },
                {
                    "name": "choline phosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine-hydrolyzing phospholipase D3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pld3",
                    "type": "recommended"
                },
                {
                    "name": "Pld3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FVH2-1",
            "evidence": [
                {
                    "id": "0080288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080288"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIF2-1",
            "uniprot_ac": "Q9VIF2",
            "uniprot_id": "Q9VIF2_DROME",
            "refseq_ac": "NP_001286117",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9248-PC",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase D family member 3, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase D family member 3, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase D family member 3, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Pld3-PC",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase D family member 3, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pld3",
                    "type": "recommended"
                },
                {
                    "name": "CG9248",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9248",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9248",
                    "type": "synonym"
                },
                {
                    "name": "Pld3",
                    "type": "synonym"
                },
                {
                    "name": "dPLD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIF2-1",
            "evidence": [
                {
                    "id": "0080288",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080288"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080288"
}