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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                                "name": "ocular cystinosis",
                                "description": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations."
                            },
                            {
                                "id": "MONDO:0009064",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
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                                "description": ""
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009064",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "juvenile nephropathic cystinosis",
                                "description": "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes."
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "cystinosis, late-onset juvenile or adolescent nephropathic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "intermediate cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "juvenile cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "juvenile nephropathic cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "nephropathic cystinosis",
                                "description": "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction."
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden Kaufmann Lignac syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden Lignac Kaufmann disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden-Kaufmann-Lignac syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden-Lignac-Kaufmann disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "CTNS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
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                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "cystinosis, nephropathic",
                                "description": ""
                            },
                            {
                                "id": "MIM:219750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/219750",
                                "name": "Cystinosis, adult, non-nephropathic type",
                                "description": "Cystinosis, adult, non-nephropathic type"
                            },
                            {
                                "id": "MIM:219900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/219900",
                                "name": "Cystinosis, late-onset juvenile or adolescent nephropathic type",
                                "description": "Cystinosis, late-onset juvenile or adolescent nephropathic type"
                            },
                            {
                                "id": "MIM:219800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/219800",
                                "name": "Cystinosis, nephropathic type",
                                "description": "Cystinosis, nephropathic type"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
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                                "id": "1064",
                                "database": "AGR",
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                "keywords": [
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                    "somatic",
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        ],
        "record_id": "pubmed.10444339",
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                ],
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        ]
    },
    {
        "title": "Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.",
        "journal": "European journal of human genetics : EJHG",
        "date": "1999",
        "authors": "McGowan-Jordan J, Stoddard K, Podolsky L, Orrbine E, McLaine P, Town M, Goodyer P, MacKenzie A, Heick H",
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        ],
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                "name": "Homo sapiens",
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                ],
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        ],
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            {
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                    {
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                    {
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                    {
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                    {
                        "id": "rs113994205",
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                    {
                        "id": "rs113994205",
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                    {
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                    {
                        "id": "9537412",
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                ],
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                "start_pos": 138,
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                "subjects_tested": "2670",
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                "frequency": "0.0",
                "sequence_org": "W",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).",
                "chr_id": "17",
                "chr_pos": "3655305",
                "ref_nt": "G",
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                "minor_allelic_frequency": "",
                "site_lbl": "W138",
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                    {
                        "disease_id": "DOID:1319",
                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1319",
                            "name": "brain cancer",
                            "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "BT - Brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                                "name": "brain neoplasm, adult",
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
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                            },
                            {
                                "id": "DOID:1319",
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "name": "malignant tumor of Brain",
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                            {
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                            },
                            {
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                            {
                                "id": "DOID:1319",
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                            {
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                                "description": ""
                            }
                        ],
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                            "DOID:3541",
                            "DOID:4706",
                            "DOID:1659",
                            "DOID:368"
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                    {
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                            "id": "DOID:1064",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1064",
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                            "description": "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17."
                        },
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                            {
                                "id": "DOID:1064",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1064",
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                            {
                                "id": "MONDO:0009064",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                                "name": "ocular cystinosis",
                                "description": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations."
                            },
                            {
                                "id": "MONDO:0009064",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                                "name": "adult-onset cystinosis",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                                "name": "non-nephropathic cystinosis",
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                            },
                            {
                                "id": "MONDO:0009064",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                                "name": "ocular cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "juvenile nephropathic cystinosis",
                                "description": "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes."
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "cystinosis, late-onset juvenile or adolescent nephropathic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "intermediate cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "juvenile cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "juvenile nephropathic cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "nephropathic cystinosis",
                                "description": "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction."
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden Kaufmann Lignac syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden Lignac Kaufmann disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden-Kaufmann-Lignac syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden-Lignac-Kaufmann disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "CTNS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
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                                "description": ""
                            },
                            {
                                "id": "MIM:219750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/219750",
                                "name": "Cystinosis, adult, non-nephropathic type",
                                "description": "Cystinosis, adult, non-nephropathic type"
                            },
                            {
                                "id": "MIM:219900",
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/219800",
                                "name": "Cystinosis, nephropathic type",
                                "description": "Cystinosis, nephropathic type"
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        "title": "Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.",
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                        "field": "o_linked_glycan_sites",
                        "count": 0
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                    {
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                    {
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
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                        "count": 0
                    },
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                        "count": 0
                    },
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                        "count": 0
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                        "count": 0
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                    {
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                        "count": 0
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                    {
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                        "count": 0
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                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.",
        "journal": "Pediatric research",
        "date": "2000",
        "authors": "Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA",
        "reference": {
            "type": "PubMed",
            "id": "10625078",
            "url": "https://pubmed.ncbi.nlm.nih.gov/10625078"
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        "referenced_glycans": [],
        "referenced_proteins": [
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                "uniprot_canonical_ac": "O60931-1",
                "protein_name": "Cystinosin",
                "gene_name": "CTNS",
                "tax_name": "Human"
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        ],
        "species": [
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                        "url": "https://www.uniprot.org/uniprotkb/O60931"
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                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
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        ],
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            {
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O60931"
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                    {
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                    {
                        "id": "rs113994207",
                        "database": "ExAC",
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                    },
                    {
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs113994207#frequency_tab"
                    },
                    {
                        "id": "rs113994207",
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                    },
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                    },
                    {
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                    }
                ],
                "glycoeffect": [],
                "start_pos": 197,
                "end_pos": 197,
                "subjects_tested": "1773",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, carbohydrate synthesis and metabolism/transporter).",
                "chr_id": "17",
                "chr_pos": "3656703",
                "ref_nt": "G",
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                "minor_allelic_frequency": "",
                "site_lbl": "G197",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:5041",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007576",
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                            {
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                            },
                            {
                                "id": "MONDO:0007576",
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                            {
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                            {
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                            {
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                            {
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                            },
                            {
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                            {
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                            {
                                "id": "MONDO:0007576",
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                            {
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                            {
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                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                                "description": ""
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                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
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                                "name": "malignant neoplasm of middle third of esophagus",
                                "description": ""
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of middle third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third esophagus",
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                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant neoplasm of upper third oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of abdominal esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of distal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of proximal third of esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumor of the middle third of the esophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
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                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                                "description": ""
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                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of proximal third of oesophagus",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007576",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                                "name": "malignant tumour of the middle third of the oesophagus",
                                "description": ""
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                                "id": "MIM:133239",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133239",
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                                "description": "Esophageal cancer"
                            }
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                        "evidence": [
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                                "id": "5041",
                                "database": "AGR",
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                        ]
                    },
                    {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9256",
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                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
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                        "synonyms": [
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "name": "malignant tumor of large intestine",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0001056",
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                            {
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                                "id": "MONDO:0001056",
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                                "id": "MONDO:0001056",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
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                            {
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                            {
                                "id": "MONDO:0001056",
                                "resource": "MONDO",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0001056",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                                "name": "malignant tumor of lesser curve of stomach",
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                            {
                                "id": "MONDO:0001056",
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                            {
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                            {
                                "id": "MONDO:0001056",
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "description": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations."
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                            {
                                "id": "MONDO:0009064",
                                "resource": "MONDO",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
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                                "description": ""
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                            {
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                            {
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                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
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                            {
                                "id": "MONDO:0009066",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden Lignac Kaufmann disease",
                                "description": ""
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden-Kaufmann-Lignac syndrome",
                                "description": ""
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden-Lignac-Kaufmann disease",
                                "description": ""
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
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    {
        "title": "The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif.",
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        "date": "2001",
        "authors": "Cherqui S, Kalatzis V, Trugnan G, Antignac C",
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                "end_pos": 288,
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                    {
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    },
    {
        "title": "A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.",
        "journal": "Journal of medical genetics",
        "date": "2001-09",
        "authors": "Rupar C A, Matsell D, Surry S, Siu V",
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            "type": "PubMed",
            "id": "11565547",
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        ],
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                "name": "Homo sapiens",
                "taxid": 9606,
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                        "id": "O60931",
                        "url": "https://www.uniprot.org/uniprotkb/O60931"
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                ],
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        ],
        "snv": [
            {
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                    },
                    {
                        "id": "rs121908127",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908127"
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                    {
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121908127#frequency_tab"
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                    {
                        "id": "11565547",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/11565547"
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                ],
                "glycoeffect": [],
                "start_pos": 339,
                "end_pos": 339,
                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.",
                "chr_id": "17",
                "chr_pos": "3660280",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G339",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:1064",
                        "recommended_name": {
                            "id": "DOID:1064",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1064",
                            "name": "cystinosis",
                            "description": "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1064",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1064",
                                "name": "cystine storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009064",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                                "name": "ocular cystinosis",
                                "description": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations."
                            },
                            {
                                "id": "MONDO:0009064",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                                "name": "adult-onset cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009064",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                                "name": "non-nephropathic cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009064",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009064",
                                "name": "ocular cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "juvenile nephropathic cystinosis",
                                "description": "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes."
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "cystinosis, late-onset juvenile or adolescent nephropathic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "intermediate cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "juvenile cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009066",
                                "name": "juvenile nephropathic cystinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "nephropathic cystinosis",
                                "description": "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction."
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden Kaufmann Lignac syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden Lignac Kaufmann disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100151",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100151",
                                "name": "Abderhalden-Kaufmann-Lignac syndrome",
                                "description": ""
                            },
                            {
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                                "name": "juvenile nephropathic cystinosis",
                                "description": "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes."
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                            {
                                "id": "MONDO:0009066",
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                            {
                                "id": "MONDO:0009066",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009066",
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                                "id": "MONDO:0009066",
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                            {
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                                "id": "MONDO:0100151",
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                            {
                                "id": "MONDO:0100151",
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                                "id": "MIM:219900",
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        "title": "Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.",
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