{
    "disease_id": "DOID:0080066",
    "recommended_name": {
        "id": "DOID:0080066",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080066",
        "name": "autosomal recessive spinocerebellar ataxia 20",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14."
    },
    "synonyms": [
        {
            "id": "DOID:0080066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080066",
            "name": "SCAR20",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "autosomal recessive spinocerebellar ataxia 20",
            "description": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene."
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "SCAR20",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "SNX14 autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "autosomal recessive cerebellar ataxia caused by mutation in SNX14",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "autosomal recessive spinocerebellar ataxia type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "spinocerebellar ataxia, autosomal recessive type 20",
            "description": ""
        },
        {
            "id": "MONDO:0014601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "name": "spinocerebellar ataxia, autosomal recessive 20",
            "description": ""
        },
        {
            "id": "MIM:616354",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616354",
            "name": "Spinocerebellar ataxia, autosomal recessive, 20",
            "description": "Spinocerebellar ataxia, autosomal recessive, 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080066"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080066",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080066",
            "categories": []
        },
        {
            "id": "MONDO:0014601",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014601",
            "categories": []
        },
        {
            "id": "MIM:616354",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616354",
            "categories": []
        }
    ],
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            "uniprot_ac": "Q5PNP1",
            "uniprot_id": "SNX14_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sorting nexin-14",
                    "type": "recommended"
                }
            ],
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                {
                    "name": "snx14",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-241p10.3",
                    "type": "synonym"
                }
            ],
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            "uniprot_ac": "F1QM62",
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            "glycoprotein": "yes",
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                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Sorting nexin-13",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                }
            ],
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                {
                    "name": "snx13",
                    "type": "recommended"
                },
                {
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                }
            ],
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            ],
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                    "type": "recommended"
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                }
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                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
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                    "name": "C330035N22Rik",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
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                    "type": "synonym"
                }
            ],
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            "glycoprotein": "yes",
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                }
            ],
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                {
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                    "type": "recommended"
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            ],
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                {
                    "name": "Snx13",
                    "type": "recommended"
                },
                {
                    "name": "Rgs-px1",
                    "type": "synonym"
                },
                {
                    "name": "Snx13",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0713",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080066",
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        },
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            "uniprot_canonical_ac": "Q3ZT31-1",
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            "glycoprotein": "no",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Sorting nexin-25",
                    "type": "recommended"
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                {
                    "name": "sorting nexin-25 isoform 3",
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            ],
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                    "name": "Snx25",
                    "type": "recommended"
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                {
                    "name": "Gm1699",
                    "type": "synonym"
                },
                {
                    "name": "Gm173",
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                {
                    "name": "Sbbi31",
                    "type": "synonym"
                },
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                    "type": "synonym"
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            "uniprot_ac": "Q9Y5W7",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                }
            ],
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                {
                    "name": "Sorting nexin-14",
                    "type": "recommended"
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                {
                    "name": "sorting nexin-14 isoform c",
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                }
            ],
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                {
                    "name": "SNX14",
                    "type": "recommended"
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                },
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                    "name": "SCAR20",
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            ],
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                    "id": "0080066",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Structural protein MDM1",
                    "type": "recommended"
                },
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                    "name": "Mdm1p",
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                {
                    "name": "Mitochondrial distribution and morphology protein 1",
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                }
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                    "name": "MDM1",
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                    "name": "Drosophila melanogaster",
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                    "name": "RP11-714G18.1",
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                    "id": "0080066",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080066"
}