{
    "disease_id": "DOID:0080195",
    "recommended_name": {
        "id": "DOID:0080195",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080195",
        "name": "Marinesco-Sjogren syndrome",
        "description": "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development."
    },
    "synonyms": [
        {
            "id": "DOID:0080195",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080195",
            "name": "hereditary oligophrenic cerebello-lental degeneration",
            "description": ""
        },
        {
            "id": "DOID:0080195",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080195",
            "name": "Garland-Moorhouse syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080195",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080195",
            "name": "Marinesco-Garland syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080195",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080195",
            "name": "Oligophrenic cerebellolenticular degeneration",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjogren syndrome",
            "description": "Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development."
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "MSS",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjogren syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marshall Smith Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjogren syndrome-myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "name": "Marinesco-Sjogren-Garland syndrome",
            "description": ""
        },
        {
            "id": "MIM:248800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248800",
            "name": "Marinesco-Sjoegren syndrome",
            "description": "Marinesco-Sjoegren syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080195"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080195",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080195",
            "categories": []
        },
        {
            "id": "MONDO:0009567",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009567",
            "categories": []
        },
        {
            "id": "MIM:248800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/248800",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0ACD6B777",
            "uniprot_id": "A0ACD6B777_DANRE",
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            "glycoprotein": "no",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Nucleotide exchange factor SIL1",
                    "type": "recommended"
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                {
                    "name": "nucleotide exchange factor SIL1",
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                }
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                }
            ],
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        },
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide exchange factor SIL1",
                    "type": "recommended"
                },
                {
                    "name": "endoplasmic reticulum chaperone SIL1 homolog",
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                {
                    "name": "nucleotide exchange factor SIL1 precursor",
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                    "name": "nucleotide exchange factor SIL1",
                    "type": "synonym"
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                {
                    "name": "Sil1",
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                {
                    "name": "1810057E01Rik",
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                },
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                    "name": "Sil1",
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                },
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                    "name": "wz",
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            ],
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                    "id": "0080195",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080195"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9H173-1",
            "uniprot_ac": "Q9H173",
            "uniprot_id": "SIL1_HUMAN",
            "refseq_ac": "NP_001032722",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide exchange factor SIL1",
                    "type": "recommended"
                },
                {
                    "name": "BAP",
                    "type": "synonym"
                },
                {
                    "name": "BiP-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "SIL1 homolog, endoplasmic reticulum chaperone",
                    "type": "synonym"
                },
                {
                    "name": "SIL1-like protein endoplasmic reticulum chaperone",
                    "type": "synonym"
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                {
                    "name": "nucleotide exchange factor SIL1 precursor",
                    "type": "synonym"
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                {
                    "name": "nucleotide exchange factor SIL1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIL1",
                    "type": "recommended"
                },
                {
                    "name": "BAP",
                    "type": "synonym"
                },
                {
                    "name": "MSS",
                    "type": "synonym"
                },
                {
                    "name": "PRO836",
                    "type": "synonym"
                },
                {
                    "name": "SIL1",
                    "type": "synonym"
                },
                {
                    "name": "ULG5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H173-1",
            "evidence": [
                {
                    "id": "248800",
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                    "url": "https://www.omim.org/entry/248800"
                },
                {
                    "id": "0080195",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08199-1",
            "uniprot_ac": "Q08199",
            "uniprot_id": "SIL1_YEAST",
            "refseq_ac": "NP_014611",
            "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": "Nucleotide exchange factor SIL1",
                    "type": "recommended"
                },
                {
                    "name": "Protein SLS1",
                    "type": "synonym"
                },
                {
                    "name": "Sil1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIL1",
                    "type": "recommended"
                },
                {
                    "name": "PER100",
                    "type": "synonym"
                },
                {
                    "name": "SIL1",
                    "type": "synonym"
                },
                {
                    "name": "SLS1",
                    "type": "synonym"
                }
            ],
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                    "id": "0080195",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080195"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P6S4-1",
            "uniprot_ac": "Q6P6S4",
            "uniprot_id": "SIL1_RAT",
            "refseq_ac": "NP_955408",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Nucleotide exchange factor SIL1",
                    "type": "recommended"
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                {
                    "name": "SIL1 homolog, endoplasmic reticulum chaperone",
                    "type": "synonym"
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                {
                    "name": "nucleotide exchange factor SIL1 precursor",
                    "type": "synonym"
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                {
                    "name": "nucleotide exchange factor SIL1",
                    "type": "synonym"
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            ],
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                {
                    "name": "Sil1",
                    "type": "recommended"
                },
                {
                    "name": "Sil1",
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                    "id": "0080195",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080195"
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            "uniprot_canonical_ac": "Q9VBV5-1",
            "uniprot_ac": "Q9VBV5",
            "uniprot_id": "SIL1_DROME",
            "refseq_ac": "NP_651356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide exchange factor Sil1",
                    "type": "recommended"
                },
                {
                    "name": "CG10420-PA",
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                },
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                    "name": "Sil1 nucleotide exchange factor",
                    "type": "synonym"
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                {
                    "name": "Sil1-PA",
                    "type": "synonym"
                }
            ],
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                    "name": "Sil1",
                    "type": "recommended"
                },
                {
                    "name": "CG10420",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10420",
                    "type": "synonym"
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                {
                    "name": "SIL1",
                    "type": "synonym"
                },
                {
                    "name": "Sil1",
                    "type": "synonym"
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            ],
            "record_id": "Q9VBV5-1",
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                    "id": "0080195",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080195"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080195"
}