{
    "disease_id": "DOID:0080057",
    "recommended_name": {
        "id": "DOID:0080057",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080057",
        "name": "autosomal recessive spinocerebellar ataxia 15",
        "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "DOID:0080057",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080057",
            "name": "SCAR15",
            "description": ""
        },
        {
            "id": "MONDO:0014311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014311",
            "name": "autosomal recessive spinocerebellar ataxia 15",
            "description": "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene."
        },
        {
            "id": "MONDO:0014311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014311",
            "name": "RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014311",
            "name": "RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014311",
            "name": "SCAR15",
            "description": ""
        },
        {
            "id": "MONDO:0014311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014311",
            "name": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN",
            "description": ""
        },
        {
            "id": "MONDO:0014311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014311",
            "name": "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN",
            "description": ""
        },
        {
            "id": "MONDO:0014311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014311",
            "name": "autosomal recessive spinocerebellar ataxia type 15",
            "description": ""
        },
        {
            "id": "MONDO:0014311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014311",
            "name": "spinocerebellar ataxia, autosomal recessive type 15",
            "description": ""
        },
        {
            "id": "MONDO:0014311",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014311",
            "name": "spinocerebellar ataxia, autosomal recessive 15",
            "description": ""
        },
        {
            "id": "MIM:615705",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615705",
            "name": "Spinocerebellar ataxia, autosomal recessive, 15",
            "description": "Spinocerebellar ataxia, autosomal recessive, 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080057"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080057",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080057",
            "categories": []
        },
        {
            "id": "MONDO:0014311",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014311",
            "categories": []
        },
        {
            "id": "MIM:615705",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615705",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0N5E8A0-1",
            "uniprot_ac": "A0A0N5E8A0",
            "uniprot_id": "A0A0N5E8A0_DANRE",
            "refseq_ac": "XP_005174116",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rubcn",
                    "type": "recommended"
                },
                {
                    "name": "rubcn",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0N5E8A0-1",
            "evidence": [
                {
                    "id": "0080057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80U62-1",
            "uniprot_ac": "Q80U62",
            "uniprot_id": "RUBIC_MOUSE",
            "refseq_ac": "NP_001186967",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Run domain Beclin-1-interacting and cysteine-rich domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "Rubicon",
                    "type": "synonym"
                },
                {
                    "name": "run domain Beclin-1 interacting and cystein-rich containing protein",
                    "type": "synonym"
                },
                {
                    "name": "run domain Beclin-1 interacting and cysteine-rich containing protein",
                    "type": "synonym"
                },
                {
                    "name": "run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform a",
                    "type": "synonym"
                },
                {
                    "name": "run domain Beclin-1-interacting and cysteine-rich domain-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rubcn",
                    "type": "recommended"
                },
                {
                    "name": "1700021K19Rik",
                    "type": "synonym"
                },
                {
                    "name": "5330403K09",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0226",
                    "type": "synonym"
                },
                {
                    "name": "Rubcn",
                    "type": "synonym"
                },
                {
                    "name": "Rubicon",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0226",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80U62-1",
            "evidence": [
                {
                    "id": "0080057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92622-1",
            "uniprot_ac": "Q92622",
            "uniprot_id": "RUBIC_HUMAN",
            "refseq_ac": "NP_001139114",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Run domain Beclin-1-interacting and cysteine-rich domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "Baron",
                    "type": "synonym"
                },
                {
                    "name": "Beclin-1 associated RUN domain containing protein",
                    "type": "synonym"
                },
                {
                    "name": "RUN and cysteine rich domain containing beclin 1 interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Rubicon",
                    "type": "synonym"
                },
                {
                    "name": "baron",
                    "type": "synonym"
                },
                {
                    "name": "beclin-1 associated RUN domain containing protein",
                    "type": "synonym"
                },
                {
                    "name": "run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rundataxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RUBCN",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0226",
                    "type": "synonym"
                },
                {
                    "name": "RUBCN",
                    "type": "synonym"
                },
                {
                    "name": "RUBICON",
                    "type": "synonym"
                },
                {
                    "name": "SCAR15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92622-1",
            "evidence": [
                {
                    "id": "615705",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615705"
                },
                {
                    "id": "0080057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K687-1",
            "uniprot_ac": "A0A0G2K687",
            "uniprot_id": "A0A0G2K687_RAT",
            "refseq_ac": "XP_038944849",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rubicon autophagy regulator",
                    "type": "synonym"
                },
                {
                    "name": "run domain Beclin-1-interacting and cysteine-rich domain-containing protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rubcn",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305422",
                    "type": "synonym"
                },
                {
                    "name": "Rubcn",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K687-1",
            "evidence": [
                {
                    "id": "0080057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080057"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3C9-1",
            "uniprot_ac": "Q9W3C9",
            "uniprot_id": "Q9W3C9_DROME",
            "refseq_ac": "NP_001259348",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12772-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rubicon, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Rubicon, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rubicon-PB",
                    "type": "synonym"
                },
                {
                    "name": "rubicon, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rubicon",
                    "type": "recommended"
                },
                {
                    "name": "CG12772",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12772",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12772",
                    "type": "synonym"
                },
                {
                    "name": "FBgn 30055",
                    "type": "synonym"
                },
                {
                    "name": "Rubicon",
                    "type": "synonym"
                },
                {
                    "name": "dRubicon",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3C9-1",
            "evidence": [
                {
                    "id": "0080057",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080057"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080057"
}