[
    {
        "title": "The critical glycosylation site of human transferrin receptor contains a high-mannose oligosaccharide.",
        "journal": "Glycobiology",
        "date": "1995",
        "authors": "Hayes GR, Williams A, Costello CE, Enns CA, Lucas JJ",
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                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
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                    {
                        "field": "o_linked_sites",
                        "count": 0
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                        "count": 0
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                        "field": "o_linked_glycan_sites",
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                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_predicted",
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                    {
                        "field": "total_sites",
                        "count": 0
                    },
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                    {
                        "field": "o_linked_sites",
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                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
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                    {
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                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
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                        "field": "total",
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                    {
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                ],
                "sort_fields": []
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        ]
    },
    {
        "title": "PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.",
        "journal": "American journal of human genetics",
        "date": "2002",
        "authors": "Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD",
        "reference": {
            "type": "PubMed",
            "id": "11992261",
            "url": "https://pubmed.ncbi.nlm.nih.gov/11992261"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "Q06124-2",
                "protein_name": "Tyrosine-protein phosphatase non-receptor type 11",
                "gene_name": "PTPN11",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q06124",
                        "url": "https://www.uniprot.org/uniprotkb/Q06124"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "Q06124",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q06124"
                    },
                    {
                        "id": "rs121918455",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918455"
                    },
                    {
                        "id": "rs121918455",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs121918455"
                    },
                    {
                        "id": "11992261",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/11992261"
                    },
                    {
                        "id": "17497712",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/17497712"
                    },
                    {
                        "id": "rs121918455",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121918455"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain"
                ],
                "start_pos": 308,
                "end_pos": 308,
                "subjects_tested": "2670",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "N",
                "sequence_mut": "S",
                "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (NAN->NAS).",
                "chr_id": "12",
                "chr_pos": "112477720",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "N308",
                "disease": [
                    {
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                        "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",
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4203",
                            "DOID:3541",
                            "DOID:4706",
                            "DOID:1659",
                            "DOID:368"
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                                "database": "AGR",
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                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "cancer of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0081452",
                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
                            "DOID:4960",
                            "DOID:8527",
                            "DOID:1036",
                            "DOID:5772"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0050458",
                        "recommended_name": {
                            "id": "DOID:0050458",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0050458",
                            "name": "juvenile myelomonocytic leukemia",
                            "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile myelomonocytic leukemia",
                                "description": "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)"
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "chronic myelomonocytic leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "chronic myelomonocytic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "JCML",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "JMML",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelogenous leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelogenous leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myeloid leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myeloid leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelomonocytic leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelomonocytic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile myelomonocytic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "leukemia, juvenile myelomonocytic, somatic",
                                "description": ""
                            },
                            {
                                "id": "MIM:607785",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607785",
                                "name": "Leukemia, juvenile myelomonocytic",
                                "description": "Leukemia, juvenile myelomonocytic"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0050458",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0050458"
                            },
                            {
                                "id": "0050458",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0050458"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14291",
                        "recommended_name": {
                            "id": "DOID:14291",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14291",
                            "name": "Noonan syndrome with multiple lentigines",
                            "description": "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature."
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                        "synonyms": [
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Generalized lentiginosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Gorlin syndrome II",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Lentiginosis profusa syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Moynahan syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Multiple lentigines syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Progressive cardiomyopathic lentiginosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "LEOPARD syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24."
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LPRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "lentiginosis, cardiomyopathic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "multiple lentigines syndrome",
                                "description": ""
                            },
                            {
                                "id": "MIM:151100",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/151100",
                                "name": "LEOPARD syndrome 1",
                                "description": "LEOPARD syndrome 1"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "14291",
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                                "url": "https://www.alliancegenome.org/disease/DOID:14291"
                            },
                            {
                                "id": "14291",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14291"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080548",
                        "recommended_name": {
                            "id": "DOID:0080548",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080548",
                            "name": "Noonan syndrome with multiple lentigines 1",
                            "description": "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24."
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                            {
                                "id": "DOID:0080548",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080548",
                                "name": "LEOPARD syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24."
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome type 1",
                                "description": ""
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                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
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                            {
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                                "name": "lentiginosis, cardiomyopathic",
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                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "multiple lentigines syndrome",
                                "description": ""
                            },
                            {
                                "id": "MIM:151100",
                                "resource": "MIM",
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                                "name": "LEOPARD syndrome 1",
                                "description": "LEOPARD syndrome 1"
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                        ],
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                            {
                                "id": "0080548",
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                    },
                    {
                        "disease_id": "DOID:0111512",
                        "recommended_name": {
                            "id": "DOID:0111512",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111512",
                            "name": "metachondromatosis",
                            "description": "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13."
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007979",
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                                "description": "Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions."
                            },
                            {
                                "id": "MONDO:0007979",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007979",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007979",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007979",
                                "name": "METACHONDROMATOSIS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007979",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007979",
                                "name": "METCDS",
                                "description": ""
                            },
                            {
                                "id": "MIM:156250",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/156250",
                                "name": "Metachondromatosis",
                                "description": "Metachondromatosis"
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                        ],
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                        "evidence": [
                            {
                                "id": "0111512",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111512"
                            },
                            {
                                "id": "0111512",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111512"
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                    },
                    {
                        "disease_id": "DOID:3490",
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                            "id": "DOID:3490",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3490",
                            "name": "Noonan syndrome",
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                                "id": "DOID:3490",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3490",
                                "name": "Turner's phenotype, karyotype normal",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008104",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008104",
                                "name": "Noonan syndrome 1",
                                "description": "Noonan syndrome caused by mutations in the PTPN11 gene."
                            },
                            {
                                "id": "MONDO:0008104",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008104",
                                "name": "NS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008104",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008104",
                                "name": "Noonan syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008104",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008104",
                                "name": "Noonan syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:163950",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/163950",
                                "name": "Noonan syndrome 1",
                                "description": "Noonan syndrome 1"
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                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3490",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3490"
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                        ]
                    },
                    {
                        "disease_id": "DOID:0060578",
                        "recommended_name": {
                            "id": "DOID:0060578",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060578",
                            "name": "Noonan syndrome 1",
                            "description": "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24."
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                            {
                                "id": "DOID:0060578",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060578",
                                "name": "NS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008104",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008104",
                                "name": "Noonan syndrome 1",
                                "description": "Noonan syndrome caused by mutations in the PTPN11 gene."
                            },
                            {
                                "id": "MONDO:0008104",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008104",
                                "name": "NS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008104",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008104",
                                "name": "Noonan syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008104",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008104",
                                "name": "Noonan syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:163950",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/163950",
                                "name": "Noonan syndrome 1",
                                "description": "Noonan syndrome 1"
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                        "evidence": [
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                                "id": "0060578",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0060578"
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                    {
                        "disease_id": "DOID:0060581",
                        "recommended_name": {
                            "id": "DOID:0060581",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0060581",
                            "name": "Noonan syndrome 3",
                            "description": "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene."
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                            {
                                "id": "DOID:0060581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0060581",
                                "name": "NS3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012371",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012371",
                                "name": "Noonan syndrome 3",
                                "description": "Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene."
                            },
                            {
                                "id": "MONDO:0012371",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012371",
                                "name": "KRAS Noonan syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012371",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012371",
                                "name": "KRAS gene related Noonan syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012371",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012371",
                                "name": "NS3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012371",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012371",
                                "name": "Noonan syndrome 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012371",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012371",
                                "name": "Noonan syndrome caused by mutation in KRAS",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012371",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012371",
                                "name": "Noonan syndrome type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:609942",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/609942",
                                "name": "Noonan syndrome 3",
                                "description": "Noonan syndrome 3"
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                                "id": "0060581",
                                "database": "AGR",
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        "record_id": "pubmed.11992261",
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            {
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        ]
    },
    {
        "title": "Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.",
        "journal": "American journal of human genetics",
        "date": "2002",
        "authors": "Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B",
        "reference": {
            "type": "PubMed",
            "id": "12058348",
            "url": "https://pubmed.ncbi.nlm.nih.gov/12058348"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "Q06124-2",
                "protein_name": "Tyrosine-protein phosphatase non-receptor type 11",
                "gene_name": "PTPN11",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q06124",
                        "url": "https://www.uniprot.org/uniprotkb/Q06124"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "Q06124",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q06124"
                    },
                    {
                        "id": "rs121918456",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918456"
                    },
                    {
                        "id": "rs121918456",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs121918456"
                    },
                    {
                        "id": "12058348",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12058348"
                    },
                    {
                        "id": "15389709",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15389709"
                    },
                    {
                        "id": "20308328",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/20308328"
                    },
                    {
                        "id": "rs121918456",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121918456"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain",
                    "o-glyco-site-loss"
                ],
                "start_pos": 279,
                "end_pos": 279,
                "subjects_tested": "2003",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "Y",
                "sequence_mut": "C",
                "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NRY->NRC).",
                "chr_id": "12",
                "chr_pos": "112473023",
                "ref_nt": "A",
                "alt_nt": "G",
                "minor_allelic_frequency": "",
                "site_lbl": "Y279",
                "disease": [
                    {
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                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3571",
                            "name": "liver cancer",
                            "description": "A hepatobiliary system cancer that is located_in the liver."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "Ca liver - primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "Resectable malignant neoplasm of Liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "hepatic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "malignant hepato-biliary neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, primary",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "malignant tumor of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "non-resectable primary hepatic malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "primary liver cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "primary malignant neoplasm of liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "resectable malignant neoplasm of the liver",
                                "description": ""
                            },
                            {
                                "id": "DOID:3571",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3571",
                                "name": "malignant neoplasm of liver, not specified as primary or secondary",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3571",
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                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0050458",
                        "recommended_name": {
                            "id": "DOID:0050458",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0050458",
                            "name": "juvenile myelomonocytic leukemia",
                            "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes."
                        },
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                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
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                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "chronic myelomonocytic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "JCML",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "JMML",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelogenous leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelogenous leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myeloid leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myeloid leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelomonocytic leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelomonocytic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile myelomonocytic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "leukemia, juvenile myelomonocytic, somatic",
                                "description": ""
                            },
                            {
                                "id": "MIM:607785",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607785",
                                "name": "Leukemia, juvenile myelomonocytic",
                                "description": "Leukemia, juvenile myelomonocytic"
                            }
                        ],
                        "unlinked_id_list": [],
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                            {
                                "id": "0050458",
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                            },
                            {
                                "id": "0050458",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0050458"
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                        ]
                    },
                    {
                        "disease_id": "DOID:14291",
                        "recommended_name": {
                            "id": "DOID:14291",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14291",
                            "name": "Noonan syndrome with multiple lentigines",
                            "description": "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature."
                        },
                        "synonyms": [
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                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
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                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Gorlin syndrome II",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Lentiginosis profusa syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Moynahan syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Multiple lentigines syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Progressive cardiomyopathic lentiginosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "LEOPARD syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24."
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LPRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "lentiginosis, cardiomyopathic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "multiple lentigines syndrome",
                                "description": ""
                            },
                            {
                                "id": "MIM:151100",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/151100",
                                "name": "LEOPARD syndrome 1",
                                "description": "LEOPARD syndrome 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14291",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14291"
                            },
                            {
                                "id": "14291",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14291"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080548",
                        "recommended_name": {
                            "id": "DOID:0080548",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080548",
                            "name": "Noonan syndrome with multiple lentigines 1",
                            "description": "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080548",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080548",
                                "name": "LEOPARD syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24."
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LPRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "lentiginosis, cardiomyopathic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "multiple lentigines syndrome",
                                "description": ""
                            },
                            {
                                "id": "MIM:151100",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/151100",
                                "name": "LEOPARD syndrome 1",
                                "description": "LEOPARD syndrome 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0080548",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080548"
                            },
                            {
                                "id": "0080548",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080548"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111512",
                        "recommended_name": {
                            "id": "DOID:0111512",
                            "resource": "Disease Ontology",
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    {
        "title": "Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.",
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        "authors": "Yoshida R, Nagai T, Hasegawa T, Kinoshita E, Tanaka T, Ogata T",
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                                "description": ""
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                                "url": "https://www.omim.org/entry/151100",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant lung tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant neoplasm of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "LNCR1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                                "name": "lung cancer susceptibility 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "LNCR3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                                "name": "lung cancer susceptibility 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "LNCR4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                                "name": "lung cancer susceptibility 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "LNCR5",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                                "name": "lung cancer susceptibility 5",
                                "description": ""
                            },
                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0081452",
                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
                            "DOID:4960",
                            "DOID:8527",
                            "DOID:1036",
                            "DOID:5772"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0050458",
                        "recommended_name": {
                            "id": "DOID:0050458",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0050458",
                            "name": "juvenile myelomonocytic leukemia",
                            "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile myelomonocytic leukemia",
                                "description": "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)"
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "chronic myelomonocytic leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "chronic myelomonocytic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "JCML",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "JMML",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelogenous leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelogenous leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myeloid leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myeloid leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelomonocytic leukaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile chronic myelomonocytic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile myelomonocytic leukemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
                                "name": "leukemia, juvenile myelomonocytic, somatic",
                                "description": ""
                            },
                            {
                                "id": "MIM:607785",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607785",
                                "name": "Leukemia, juvenile myelomonocytic",
                                "description": "Leukemia, juvenile myelomonocytic"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0050458",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0050458"
                            },
                            {
                                "id": "0050458",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0050458"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14291",
                        "recommended_name": {
                            "id": "DOID:14291",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14291",
                            "name": "Noonan syndrome with multiple lentigines",
                            "description": "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Generalized lentiginosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Gorlin syndrome II",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Lentiginosis profusa syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Moynahan syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Multiple lentigines syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Progressive cardiomyopathic lentiginosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:14291",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14291",
                                "name": "LEOPARD syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24."
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LPRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "lentiginosis, cardiomyopathic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "multiple lentigines syndrome",
                                "description": ""
                            },
                            {
                                "id": "MIM:151100",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/151100",
                                "name": "LEOPARD syndrome 1",
                                "description": "LEOPARD syndrome 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14291",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14291"
                            },
                            {
                                "id": "14291",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14291"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080548",
                        "recommended_name": {
                            "id": "DOID:0080548",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080548",
                            "name": "Noonan syndrome with multiple lentigines 1",
                            "description": "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080548",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080548",
                                "name": "LEOPARD syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24."
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LPRD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "lentiginosis, cardiomyopathic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "multiple lentigines syndrome",
                                "description": ""
                            },
                            {
                                "id": "MIM:151100",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/151100",
                                "name": "LEOPARD syndrome 1",
                                "description": "LEOPARD syndrome 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0080548",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080548"
                            },
                            {
                                "id": "0080548",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080548"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111512",
                        "recommended_name": {
                            "id": "DOID:0111512",
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        "title": "Salicylic acid based small molecule inhibitor for the oncogenic Src homology-2 domain containing protein tyrosine phosphatase-2 (SHP2).",
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        "authors": "Zhang Xian, He Yantao, Liu Sijiu, Yu Zhihong, Jiang Zhong-Xing, Yang Zhenyun, Dong Yuanshu, Nabinger Sarah C, Wu Li, Gunawan Andrea M, Wang Lina, Chan Rebecca J, Zhang Zhong-Yin",
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    {
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                                "id": "MONDO:0011908",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011908",
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                                "id": "MONDO:0011908",
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                                "description": "Leukemia, juvenile myelomonocytic"
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                            "url": "https://disease-ontology.org/term/DOID:14291",
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                                "description": ""
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                                "description": ""
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                                "id": "DOID:14291",
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                                "description": ""
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                                "url": "https://disease-ontology.org/term/DOID:14291",
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                                "description": ""
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                                "description": ""
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                                "description": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24."
                            },
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                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LEOPARD syndrome type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100082",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100082",
                                "name": "LPRD1",
                                "description": ""
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