{
    "disease_id": "DOID:0070410",
    "recommended_name": {
        "id": "DOID:0070410",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070410",
        "name": "autosomal recessive spinocerebellar ataxia 29",
        "description": "An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14."
    },
    "synonyms": [
        {
            "id": "DOID:0070410",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070410",
            "name": "SCAR29",
            "description": ""
        },
        {
            "id": "MONDO:0030312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "name": "spinocerebellar ataxia, autosomal recessive 29",
            "description": ""
        },
        {
            "id": "MONDO:0030312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "name": "Barakat-Van Ham-Kaya syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "name": "SCAR29",
            "description": ""
        },
        {
            "id": "MONDO:0030312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "name": "neurodevelopmental disorder with hypotonia and cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0030312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "name": "spinocerebellar ataxia, autosomal recessive 29",
            "description": ""
        },
        {
            "id": "MIM:619389",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619389",
            "name": "Spinocerebellar ataxia, autosomal recessive, 29",
            "description": "Spinocerebellar ataxia, autosomal recessive, 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070410"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070410",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070410",
            "categories": []
        },
        {
            "id": "MONDO:0030312",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030312",
            "categories": []
        },
        {
            "id": "MIM:619389",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619389",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F590-1",
            "uniprot_ac": "E7F590",
            "uniprot_id": "VPS41_DANRE",
            "refseq_ac": "NP_001410716",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 41 homolog",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting 41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 41 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps41",
                    "type": "recommended"
                },
                {
                    "name": "fa01f11",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-146l10.2",
                    "type": "synonym"
                },
                {
                    "name": "vps41",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa01f11",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F590-1",
            "evidence": [
                {
                    "id": "0070410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5KU39-1",
            "uniprot_ac": "Q5KU39",
            "uniprot_id": "VPS41_MOUSE",
            "refseq_ac": "NP_742118",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 41 homolog",
                    "type": "recommended"
                },
                {
                    "name": "VAM2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mVAM2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 41",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 41 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps41",
                    "type": "recommended"
                },
                {
                    "name": "Vam2",
                    "type": "synonym"
                },
                {
                    "name": "Vps41",
                    "type": "synonym"
                },
                {
                    "name": "mVam2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5KU39-1",
            "evidence": [
                {
                    "id": "0070410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49754-1",
            "uniprot_ac": "P49754",
            "uniprot_id": "VPS41_HUMAN",
            "refseq_ac": "NP_055211",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 41 homolog",
                    "type": "recommended"
                },
                {
                    "name": "S53",
                    "type": "synonym"
                },
                {
                    "name": "VPS41, HOPS complex subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar assembly protein 41",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 41 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 41 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS41",
                    "type": "recommended"
                },
                {
                    "name": "HVPS41",
                    "type": "synonym"
                },
                {
                    "name": "HVSP41",
                    "type": "synonym"
                },
                {
                    "name": "SCAR29",
                    "type": "synonym"
                },
                {
                    "name": "VPS41",
                    "type": "synonym"
                },
                {
                    "name": "hVps41p",
                    "type": "synonym"
                }
            ],
            "record_id": "P49754-1",
            "evidence": [
                {
                    "id": "619389",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619389"
                },
                {
                    "id": "0070410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38959-1",
            "uniprot_ac": "P38959",
            "uniprot_id": "VPS41_YEAST",
            "refseq_ac": "NP_010365",
            "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": "Vacuolar protein sorting-associated protein 41",
                    "type": "recommended"
                },
                {
                    "name": "Vacuolar morphogenesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Vps41p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS41",
                    "type": "recommended"
                },
                {
                    "name": "CVT8",
                    "type": "synonym"
                },
                {
                    "name": "D446",
                    "type": "synonym"
                },
                {
                    "name": "FET2",
                    "type": "synonym"
                },
                {
                    "name": "SVL2",
                    "type": "synonym"
                },
                {
                    "name": "VAM2",
                    "type": "synonym"
                },
                {
                    "name": "VPL20",
                    "type": "synonym"
                },
                {
                    "name": "VPS41",
                    "type": "synonym"
                },
                {
                    "name": "YD8554.13",
                    "type": "synonym"
                }
            ],
            "record_id": "P38959-1",
            "evidence": [
                {
                    "id": "0070410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AQ35-1",
            "uniprot_ac": "A0A8I6AQ35",
            "uniprot_id": "A0A8I6AQ35_RAT",
            "refseq_ac": "NP_001386247",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 41 homolog",
                    "type": "recommended"
                },
                {
                    "name": "VPS41 HOPS complex subunit",
                    "type": "synonym"
                },
                {
                    "name": "Vam2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 41 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps41",
                    "type": "recommended"
                },
                {
                    "name": "RGD1560511",
                    "type": "synonym"
                },
                {
                    "name": "Vps41",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AQ35-1",
            "evidence": [
                {
                    "id": "0070410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7PL76-1",
            "uniprot_ac": "Q7PL76",
            "uniprot_id": "VPS41_DROME",
            "refseq_ac": "NP_001036417",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 41 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG18028-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein light",
                    "type": "synonym"
                },
                {
                    "name": "light, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "lt-PC",
                    "type": "synonym"
                },
                {
                    "name": "pink-wing",
                    "type": "synonym"
                },
                {
                    "name": "pinkoid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lt",
                    "type": "recommended"
                },
                {
                    "name": "CG18028",
                    "type": "synonym"
                },
                {
                    "name": "Dm-lt(het)",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18028",
                    "type": "synonym"
                },
                {
                    "name": "Lt",
                    "type": "synonym"
                },
                {
                    "name": "Vps41",
                    "type": "synonym"
                },
                {
                    "name": "l(2)40Fb",
                    "type": "synonym"
                },
                {
                    "name": "lt",
                    "type": "synonym"
                },
                {
                    "name": "vps41",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7PL76-1",
            "evidence": [
                {
                    "id": "0070410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070410"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070410"
}