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assessment of missense variants in GLDC to understand phenotypes of the disease.", "journal": "Human mutation", "date": "2017", "authors": "Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, Garcia-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, Perez B, Perez-Cerda C, Rodriguez-Pombo P", "reference": { "type": "PubMed", "id": "28244183", "url": "https://pubmed.ncbi.nlm.nih.gov/28244183" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23378-1", "protein_name": "Glycine dehydrogenase (decarboxylating), mitochondrial", "gene_name": "GLDC", "tax_name": "Human" }, { "uniprot_canonical_ac": "P48728-1", "protein_name": "Aminomethyltransferase, mitochondrial", "gene_name": "AMT", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23378", "url": "https://www.uniprot.org/uniprotkb/P23378" } ], "common_name": "Human", 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through epithelial-mesenchymal transition mediated by Hippo signaling pathway.", "journal": "Medical oncology (Northwood, London, England)", "date": "2023-09-05", "authors": "Yu Hao, Hu Xueqing, Zhang Yingru, Wang Jiajia, Ni Zhongya, Wang Yan, Zhu Huirong", "reference": { "type": "PubMed", "id": "37668829", "url": "https://pubmed.ncbi.nlm.nih.gov/37668829" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23378-1", "protein_name": "Glycine dehydrogenase (decarboxylating), mitochondrial", "gene_name": "GLDC", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23378", "url": "https://www.uniprot.org/uniprotkb/P23378" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37668829", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Glycine Decarboxylase (GLDC) Plays a Crucial Role in Regulating Energy Metabolism, Invasion, Metastasis and Immune Escape for Prostate Cancer.", "journal": "International journal of biological sciences", "date": "2023", "authors": "Chen Ming-Kun, Xiao Zhuo-Yu, Huang Zhi-Peng, Xue Kang-Yi, Xia Hui, Zhou Jia-Wei, Liao De-Ying, Liang Zhi-Jian, Xie Xiao, Wei Qing-Zhu, Zhong Lin, Yang Jian-Kun, Liu Cun-Dong, Liu Yang, Zhao Shan-Chao", "reference": { "type": "PubMed", "id": "37781511", "url": "https://pubmed.ncbi.nlm.nih.gov/37781511" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23378-1", "protein_name": "Glycine dehydrogenase (decarboxylating), mitochondrial", "gene_name": "GLDC", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23378", "url": "https://www.uniprot.org/uniprotkb/P23378" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.37781511", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": 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"glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Characterization of the human glycogenin-1 gene: identification of a muscle-specific regulatory domain.", "journal": "Gene", "date": "1999", "authors": "van Maanen M H, Fournier P A, Palmer T N, Abraham L J", "reference": { "type": "PubMed", "id": "10395894", "url": "https://pubmed.ncbi.nlm.nih.gov/10395894" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46976-1", "protein_name": "Glycogenin-1", "gene_name": "GYG1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46976", "url": "https://www.uniprot.org/uniprotkb/P46976" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10395894", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "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 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Structure and chromosomal localization of the human glycogenin-2 gene GYG2.", "journal": "Gene", "date": "2000", "authors": "Zhai L, Mu J, Zong H, DePaoli-Roach A A, Roach P J", "reference": { "type": "PubMed", "id": "10721716", "url": "https://pubmed.ncbi.nlm.nih.gov/10721716" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46976-1", "protein_name": "Glycogenin-1", "gene_name": "GYG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "O15488-1", "protein_name": "Glycogenin-2", "gene_name": "GYG2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46976", "url": "https://www.uniprot.org/uniprotkb/P46976" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.10721716", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "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 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.", "journal": "Human molecular genetics", "date": "2003", "authors": "Fernandez-Sanchez ME, Criado-Garcia O, Heath KE, Garcia-Fojeda B, Medrano-Fernandez I, Gomez-Garre P, Sanz P, Serratosa JM, Rodriguez de Cordoba S", "reference": { "type": "PubMed", "id": "14532330", "url": "https://pubmed.ncbi.nlm.nih.gov/14532330" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46976-1", "protein_name": "Glycogenin-1", "gene_name": "GYG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13807-1", "protein_name": "Glycogen [starch] synthase, muscle", "gene_name": "GYS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9UQK1-1", "protein_name": "Protein phosphatase 1 regulatory subunit 3C", "gene_name": "PPP1R3C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q6VVB1-1", "protein_name": "E3 ubiquitin-protein ligase NHLRC1", "gene_name": "NHLRC1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62979-1", "protein_name": "Ubiquitin-ribosomal protein eS31 fusion protein", "gene_name": "RPS27A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0CG47-1", "protein_name": "Polyubiquitin-B", "gene_name": "UBB", "tax_name": "Human" }, { "uniprot_canonical_ac": "P62987-1", "protein_name": "Ubiquitin-ribosomal protein eL40 fusion protein", "gene_name": "UBA52", "tax_name": "Human" }, { "uniprot_canonical_ac": "B3EWF7-1", "protein_name": "Laforin, isoform 9", "gene_name": "EPM2A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P0CG48-1", "protein_name": "Polyubiquitin-C", "gene_name": "UBC", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46976", "url": "https://www.uniprot.org/uniprotkb/P46976" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mutagenesis": [ { "start_pos": 247, "end_pos": 247, "sequence_org": "D", "sequence_mut": "A", "comment": "No interaction with EPM2A; when associated with A-250.", "evidence": [ { "database": "UniProtKB", "id": "Q9UQK1", "url": "https://www.uniprot.org/uniprotkb/Q9UQK1" }, { "database": "PubMed", "id": "14532330", "url": "https://pubmed.ncbi.nlm.nih.gov/14532330" } ], "uniprot_canonical_ac": "Q9UQK1-1" }, { "start_pos": 250, "end_pos": 250, "sequence_org": "D", "sequence_mut": "A", "comment": "No interaction with EPM2A; when associated with A-247.", "evidence": [ { "database": "UniProtKB", "id": "Q9UQK1", "url": "https://www.uniprot.org/uniprotkb/Q9UQK1" }, { "database": "PubMed", "id": "14532330", "url": "https://pubmed.ncbi.nlm.nih.gov/14532330" } ], "uniprot_canonical_ac": "Q9UQK1-1" }, { "start_pos": 85, "end_pos": 85, "sequence_org": "V", "sequence_mut": "A", "comment": "No effect on interaction with EPM2A; when associated with A-87.", "evidence": [ { "database": "UniProtKB", "id": "Q9UQK1", "url": "https://www.uniprot.org/uniprotkb/Q9UQK1" }, { "database": "PubMed", "id": "14532330", "url": "https://pubmed.ncbi.nlm.nih.gov/14532330" } ], "uniprot_canonical_ac": "Q9UQK1-1" }, { "start_pos": 87, "end_pos": 87, "sequence_org": "F", "sequence_mut": "A", "comment": "No effect on interaction with EPM2A; when associated with A-85.", "evidence": [ { "database": "UniProtKB", "id": "Q9UQK1", "url": "https://www.uniprot.org/uniprotkb/Q9UQK1" }, { "database": "PubMed", "id": "14532330", "url": "https://pubmed.ncbi.nlm.nih.gov/14532330" } ], "uniprot_canonical_ac": "Q9UQK1-1" }, { "start_pos": 235, "end_pos": 235, "sequence_org": "P", "sequence_mut": "A", "comment": "Complete loss of phosphatase activity. Does not affect glycogen binding.", "evidence": [ { "database": "UniProtKB", "id": "O95278", "url": "https://www.uniprot.org/uniprotkb/O95278" }, { "database": "PubMed", "id": "14532330", "url": "https://pubmed.ncbi.nlm.nih.gov/14532330" }, { "database": "PubMed", "id": "25538239", "url": "https://pubmed.ncbi.nlm.nih.gov/25538239" } ], "uniprot_canonical_ac": "B3EWF7-1" }, { "start_pos": 266, "end_pos": 266, "sequence_org": "L", "sequence_mut": "S", "comment": "Complete loss of phosphatase activity. Does not affect glycogen binding. Does not affect self-interaction. Increases the interaction with PPP1R3C.", "evidence": [ { "database": "UniProtKB", "id": "O95278", "url": "https://www.uniprot.org/uniprotkb/O95278" }, { "database": "PubMed", "id": "23922729", "url": "https://pubmed.ncbi.nlm.nih.gov/23922729" }, { "database": "PubMed", "id": "25544560", "url": "https://pubmed.ncbi.nlm.nih.gov/25544560" }, { "database": "PubMed", "id": "22036712", "url": "https://pubmed.ncbi.nlm.nih.gov/22036712" }, { "database": "PubMed", "id": "14532330", "url": "https://pubmed.ncbi.nlm.nih.gov/14532330" }, { "database": "PubMed", "id": "11739371", "url": "https://pubmed.ncbi.nlm.nih.gov/11739371" }, { "database": "PubMed", "id": "25538239", "url": "https://pubmed.ncbi.nlm.nih.gov/25538239" }, { "database": "PubMed", "id": "11220751", "url": "https://pubmed.ncbi.nlm.nih.gov/11220751" } ], "uniprot_canonical_ac": "B3EWF7-1" } ], "record_id": "pubmed.14532330", "abstract": "", "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 9 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "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 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Interaction between glycogenin and glycogen synthase.", "journal": "Arch. Biochem. Biophys.", "date": "2006", "authors": "Skurat Alexander V, Dietrich Amy D, Roach Peter J", "reference": { "type": "PubMed", "id": "17055998", "url": "https://pubmed.ncbi.nlm.nih.gov/17055998" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46976-1", "protein_name": "Glycogenin-1", "gene_name": "GYG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13807-1", "protein_name": "Glycogen [starch] synthase, muscle", "gene_name": "GYS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46976", "url": "https://www.uniprot.org/uniprotkb/P46976" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.17055998", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "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 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.", "journal": "The New England journal of medicine", "date": "2007", "authors": "Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E", "reference": { "type": "PubMed", "id": "17928598", "url": "https://pubmed.ncbi.nlm.nih.gov/17928598" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46976-1", "protein_name": "Glycogenin-1", "gene_name": "GYG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P13807-1", "protein_name": "Glycogen [starch] synthase, muscle", "gene_name": "GYS1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46976", "url": "https://www.uniprot.org/uniprotkb/P46976" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "P13807", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P13807" }, { "id": "rs121434584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121434584" }, { "id": "rs121434584", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121434584" }, { "id": "rs121434584", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121434584#frequency_tab" }, { "id": "rs121434584", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121434584" }, { "id": "17928598", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/17928598" }, { "id": "rs121434584", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121434584" } ], "glycoeffect": [], "start_pos": 462, "end_pos": 462, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "*", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).", "chr_id": "19", "chr_pos": "48974658", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R462", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3149", "DOID:3451" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "disease_id": "DOID:0061272", "recommended_name": { "id": "DOID:0061272", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0061272", "name": "muscle glycogen storage disease", "description": "A glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that has_material_basis_in homozygous mutation in the GYS1 gene which encodes muscle glycogen synthase, on chromosome 19q13." }, "synonyms": [ { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease due to muscle and heart glycogen synthase deficiency", "description": "A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase." }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "GSD due to muscle and heart glycogen synthase deficiency", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "GSD type 0b", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease due to glycogen synthase deficiency of heart", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease type 0b", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogenosis due to muscle and heart glycogen synthase deficiency", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogenosis type 0b", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "heart glycogen storage disease due to glycogen synthase deficiency", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "GSD0B", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease 0, muscle", "description": "" }, { "id": "MONDO:0012693", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012693", "name": "glycogen storage disease type 0, muscle", "description": "" }, { "id": "MIM:611556", "resource": "MIM", "url": "https://www.omim.org/entry/611556", "name": "Muscle glycogen storage disease 0", "description": "Muscle glycogen storage disease 0" } ], "unlinked_id_list": [], "evidence": [ { "id": "611556", "database": "MIM", "url": "https://www.omim.org/entry/611556" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.01.000.000", "uniprot_canonical_ac": "P13807-1" } ], "record_id": "pubmed.17928598", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": 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"count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Chaikuad A, Froese DS, Berridge G, von Delft F, Oppermann U, Yue WW", "reference": { "type": "PubMed", "id": "22160680", "url": "https://pubmed.ncbi.nlm.nih.gov/22160680" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P46976-1", "protein_name": "Glycogenin-1", "gene_name": "GYG1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P46976", "url": "https://www.uniprot.org/uniprotkb/P46976" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "Y", "relation": "attached", "comment": "O-linked (Glc...) tyrosine;O-glucosylation", "icn3d_view": {}, "start_pos": 195, "start_aa": "Tyr", "end_pos": 195, "end_aa": "Tyr", "residue": "Tyr", "site_lbl": "Tyr195", "evidence": [ { "id": "P46976", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P46976#ptm_processing" }, { "id": "30356213", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/30356213" }, { "id": "22160680", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/22160680" }, { "id": "3U2V", "database": "PDB", "url": "https://www.rcsb.org/sequence/3U2V" }, { "id": "3U2U", "database": "PDB", "url": "https://www.rcsb.org/sequence/3U2U" } ], 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": 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Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). 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"https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", 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"DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", 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"database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { 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"https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.01.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs80356768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80356768" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "8516282", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8516282" }, { "id": "rs2148071537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2148071537" } ], "glycoeffect": [], "start_pos": 422, "end_pos": 422, "sequence_org": "L", "sequence_mut": "null", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "155235752_155235806", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L422", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { 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"https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", 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"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:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, 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"database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the 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disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": 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"DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body 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"https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "filter_code": "001000000000000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs121908311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908311" }, { "id": "rs121908311", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908311" }, { "id": "rs121908311", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908311" }, { "id": "10466427", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10466427" }, { "id": "12595585", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/12595585" }, { "id": "2569551", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2569551" }, { "id": "rs121908311", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121908311" } ], "glycoeffect": [], "start_pos": 416, "end_pos": 416, "subjects_tested": "719", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155235823", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G416", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": 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"Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).", "chr_id": "1", "chr_pos": "155238141", "ref_nt": "A", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "F252", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the 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"Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). 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Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive 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It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { 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"https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body 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"database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { 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"https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline 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The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. 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"description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": 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{ "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": 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"database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is 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"url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", 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"https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { 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disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", 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"https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher 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"database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", 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"https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": 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"A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", 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"https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher 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"database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] } ], "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.10.000.000", "uniprot_canonical_ac": "P04062-1" } ], "record_id": "pubmed.15214004", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of 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"https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile 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"https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher 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"database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { 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in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body 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has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": 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"DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is 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"url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" }, { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ], "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000", "uniprot_canonical_ac": "P04062-1" }, { "evidence": [ { "id": "rs368060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368060" }, { "id": "rs368060", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368060" }, { "id": "rs368060", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368060" }, { "id": "10685993", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10685993" }, { "id": "1437405", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1437405" }, { "id": "1594045", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1594045" }, { "id": "1899336", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1899336" }, { "id": "1972019", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1972019" }, { "id": "7857677", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/7857677" }, { "id": "8118460", 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GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0110958", 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It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of 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"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:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher 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It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, 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neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", 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"minor_allelic_frequency": "", "site_lbl": "L483", "disease": [ { "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:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "perinatal lethal Gaucher disease", "description": "" }, { "id": "MIM:608013", "resource": "MIM", "url": "https://www.omim.org/entry/608013", "name": "Gaucher disease perinatal lethal", "description": "Gaucher disease perinatal lethal" } ], "unlinked_id_list": [], "evidence": [ { "id": "608013", "database": "MIM", "url": "https://www.omim.org/entry/608013" }, { "id": "0110960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110960" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body dementia, susceptibility to", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MIM:127750", "resource": "MIM", "url": "https://www.omim.org/entry/127750", "name": "Dementia, Lewy body", "description": "Dementia, Lewy body" } ], "unlinked_id_list": [], "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ] }, { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher's disease type I", "description": "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gaucher Disease, Noncerebral Juvenile", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Gba Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "Glucocerebrosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110957", "name": "GD1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia." }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, noncerebral juvenile", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher's disease type I", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gba deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "acid Beta-glucosidase deficiency", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "non-cerebral juvenile Gaucher disease", "description": "" }, { "id": "MIM:230800", "resource": "MIM", "url": "https://www.omim.org/entry/230800", "name": "Gaucher disease 1", "description": "Gaucher disease 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009265", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265" }, { "id": "230800", "database": "MIM", "url": "https://www.omim.org/entry/230800" }, { "id": "0110957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110957" } ] }, { "disease_id": "DOID:0110958", "recommended_name": { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", "description": "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "Infantile Cerebral Gaucher Disease", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110958", "name": "GD2", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, acute neuronopathic type", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher's disease type II", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "acute neuronopathic Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "infantile cerebral Gaucher disease", "description": "" }, { "id": "MONDO:0009266", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266", "name": "Gaucher disease, infantile cerebral", "description": "" }, { "id": "MIM:230900", "resource": "MIM", "url": "https://www.omim.org/entry/230900", "name": "Gaucher disease 2", "description": "Gaucher disease 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009266", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009266" }, { "id": "230900", "database": "MIM", "url": "https://www.omim.org/entry/230900" }, { "id": "0110958", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110958" } ] }, { "disease_id": "DOID:0110959", "recommended_name": { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher's disease type III", "description": "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Subacute Neuronopathic Type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, juvenile and adult, cerebral", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher's disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "cerebral juvenile and adult form of Gaucher disease", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "chronic neuronopathic Gaucher disease", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009267", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher-like disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease - ophthalmoplegia - cardiovascular calcification", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:0110960", "recommended_name": { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher's disease perinatal lethal", "description": "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Fetal Gaucher Disease", "description": "" }, { "id": "DOID:0110960", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110960", "name": "Gaucher Disease, Collodion Type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD)." }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, collodion type", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher disease, perinatal-lethal form", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "Gaucher's disease perinatal lethal", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "fetal Gaucher disease", "description": "" }, { "id": "MONDO:0011945", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011945", "name": "foetal Gaucher 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"https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1." }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type III", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Subacute neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, chronic neuronopathic type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher 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"database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267" }, { "id": "231000", "database": "MIM", "url": "https://www.omim.org/entry/231000" }, { "id": "0110959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110959" } ] }, { "disease_id": "DOID:0112250", "recommended_name": { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher's disease type IIIC", "description": "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22." }, "synonyms": [ { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0112250", "name": "cardiovascular Gaucher disease", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome", "description": "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." }, { 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"https://monarchinitiative.org/disease/MONDO:0009268", "name": "pseudo Gaucher disease", "description": "" }, { "id": "MIM:231005", "resource": "MIM", "url": "https://www.omim.org/entry/231005", "name": "Gaucher disease 3C", "description": "Gaucher disease 3C" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009268", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268" }, { "id": "231005", "database": "MIM", "url": "https://www.omim.org/entry/231005" }, { "id": "0112250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112250" } ] }, { "disease_id": "DOID:12217", "recommended_name": { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies." }, "synonyms": [ { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:12217", "name": "Senile dementia of the Lewy body type", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease." }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "DLB", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body dementia", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "cortical Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia with Lewy bodies", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "lewy body 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"description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "unlinked_id_list": [], "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", 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