{
    "disease_id": "DOID:0050766",
    "recommended_name": {
        "id": "DOID:0050766",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050766",
        "name": "choreaacanthocytosis",
        "description": "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21."
    },
    "synonyms": [
        {
            "id": "DOID:0050766",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050766",
            "name": "Levine-Critchley syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050766",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050766",
            "name": "choreo-acanthocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "VPS13A-related neurodegenerative disease",
            "description": "A form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene."
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "CHAC",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "Chac",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "Levine-Critchley syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "VPS13A disease",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "chorea-acanthocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0008695",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "name": "choreoacanthocytosis",
            "description": ""
        },
        {
            "id": "MIM:200150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/200150",
            "name": "Choreoacanthocytosis",
            "description": "Choreoacanthocytosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050766"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050766",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050766",
            "categories": []
        },
        {
            "id": "MONDO:0008695",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008695",
            "categories": []
        },
        {
            "id": "MIM:200150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/200150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BET3-1",
            "uniprot_ac": "A0A8M2BET3",
            "uniprot_id": "A0A8M2BET3_DANRE",
            "refseq_ac": "NP_001429275",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13A isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps13a",
                    "type": "recommended"
                },
                {
                    "name": "chac",
                    "type": "synonym"
                },
                {
                    "name": "vps13a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc10c04",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BET3-1",
            "evidence": [
                {
                    "id": "0050766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050766"
                }
            ]
        },
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            "uniprot_ac": "A0A8M9P9K9",
            "uniprot_id": "A0A8M9P9K9_DANRE",
            "refseq_ac": "XP_021327607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13C isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13C isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps13c",
                    "type": "recommended"
                },
                {
                    "name": "vps13c",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P9K9-1",
            "evidence": [
                {
                    "id": "0050766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5H8C4-1",
            "uniprot_ac": "Q5H8C4",
            "uniprot_id": "VP13A_MOUSE",
            "refseq_ac": "NP_766616",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13A",
                    "type": "recommended"
                },
                {
                    "name": "Chorea-acanthocytosis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Chorein",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13A",
                    "type": "synonym"
                },
                {
                    "name": "chorea-acanthocytosis protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps13a",
                    "type": "recommended"
                },
                {
                    "name": "4930425F11",
                    "type": "synonym"
                },
                {
                    "name": "4930516E05Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930543C13Rik",
                    "type": "synonym"
                },
                {
                    "name": "9930023P20",
                    "type": "synonym"
                },
                {
                    "name": "Chac",
                    "type": "synonym"
                },
                {
                    "name": "Chorein",
                    "type": "synonym"
                },
                {
                    "name": "D330038K10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0986",
                    "type": "synonym"
                },
                {
                    "name": "Vps13a",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0986",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5H8C4-1",
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                {
                    "id": "0050766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BX70-1",
            "uniprot_ac": "Q8BX70",
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            "refseq_ac": "NP_796158",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13C",
                    "type": "recommended"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13C",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13C",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps13c",
                    "type": "recommended"
                },
                {
                    "name": "C230055H22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa3021",
                    "type": "synonym"
                },
                {
                    "name": "Vps13c",
                    "type": "synonym"
                },
                {
                    "name": "chorein",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BX70-1",
            "evidence": [
                {
                    "id": "0050766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RL7-1",
            "uniprot_ac": "Q96RL7",
            "uniprot_id": "VP13A_HUMAN",
            "refseq_ac": "NP_001018047",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13A",
                    "type": "recommended"
                },
                {
                    "name": "Chorea-acanthocytosis protein",
                    "type": "synonym"
                },
                {
                    "name": "Chorein",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13A",
                    "type": "synonym"
                },
                {
                    "name": "bridge-like lipid transfer protein family member 5A",
                    "type": "synonym"
                },
                {
                    "name": "chorea-acanthocytosis protein",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13A isoform C",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 13A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13A",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "VPS13A",
                    "type": "recommended"
                },
                {
                    "name": "BLTP5A",
                    "type": "synonym"
                },
                {
                    "name": "CHAC",
                    "type": "synonym"
                },
                {
                    "name": "CHOREIN",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0986",
                    "type": "synonym"
                },
                {
                    "name": "VPS13A",
                    "type": "synonym"
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            ],
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                    "id": "0050766",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07878-1",
            "uniprot_ac": "Q07878",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein VPS13",
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                    "name": "Suppression of the onset of impotence protein 1",
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                {
                    "name": "Vacuolar protein sorting-associated protein 13",
                    "type": "synonym"
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                {
                    "name": "Vacuolar protein-targeting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane morphogenesis protein VPS13",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "VPS13",
                    "type": "recommended"
                },
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                    "name": "SOI1",
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                },
                {
                    "name": "VPS13",
                    "type": "synonym"
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                {
                    "name": "VPT2",
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                {
                    "name": "YME3",
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            ],
            "record_id": "Q07878-1",
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                {
                    "id": "0050766",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A4A2-1",
            "uniprot_ac": "A0A8I6A4A2",
            "uniprot_id": "A0A8I6A4A2_RAT",
            "refseq_ac": "NP_001094445",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Vacuolar protein sorting 13 homolog A",
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                },
                {
                    "name": "chorein",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 13A",
                    "type": "synonym"
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                    "name": "vacuolar protein sorting-associated protein 13A",
                    "type": "synonym"
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            ],
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                {
                    "name": "Vps13a",
                    "type": "recommended"
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                    "name": "RGD1311340",
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                },
                {
                    "name": "Vps13a",
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                }
            ],
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                {
                    "id": "0050766",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050766"
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            ]
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            "uniprot_canonical_ac": "A0A8I5ZMR7-1",
            "uniprot_ac": "A0A8I5ZMR7",
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            "refseq_ac": "",
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                {
                    "name": "Rattus norvegicus",
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                }
            ],
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                {
                    "name": "Vacuolar protein sorting 13 homolog C",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Vps13c",
                    "type": "recommended"
                }
            ],
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                {
                    "id": "0050766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z713-1",
            "uniprot_ac": "A1Z713",
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            "refseq_ac": "NP_001260781",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intermembrane lipid transfer protein Vps13",
                    "type": "recommended"
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                    "name": "CG2093-PB",
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                    "name": "Vacuolar protein sorting-associated protein 13",
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                    "name": "Vps13-PB",
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                {
                    "name": "vacuolar protein sorting 13, isoform B",
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            ],
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                    "name": "Vps13",
                    "type": "recommended"
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                    "name": "BEST:LD02743",
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                },
                {
                    "name": "CG2093",
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                {
                    "name": "Dmel\\CG2093",
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                {
                    "name": "Vps13",
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                    "id": "0050766",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050766"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q709C8-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Intermembrane lipid transfer protein VPS13C",
                    "type": "recommended"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 13C",
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                },
                {
                    "name": "bridge-like lipid transfer protein family member 5C",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13C isoform 2B",
                    "type": "synonym"
                },
                {
                    "name": "intermembrane lipid transfer protein VPS13C",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 13C",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "VPS13C",
                    "type": "recommended"
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                {
                    "name": "BLTP5C",
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                },
                {
                    "name": "KIAA1421",
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                {
                    "name": "PARK23",
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                },
                {
                    "name": "VPS13C",
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                }
            ],
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                {
                    "id": "0050766",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050766"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050766"
}