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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. 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). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs367968666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367968666" }, { "id": "rs367968666", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs367968666" }, { "id": "rs367968666", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs367968666#frequency_tab" }, { "id": "rs367968666", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs367968666" }, { "id": "15690354", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/15690354" } ], "glycoeffect": [], "start_pos": 294, "end_pos": 294, "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155237458", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H294", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0110957", "recommended_name": { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:0110957", "name": "Acid Beta-Glucosidase Deficiency", "description": "" }, { "id": "DOID:0110957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110957", "name": "GD I", "description": "" 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"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": "Gd 1", "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": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher's disease type II", 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"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": "http://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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease type 1", "description": "" }, { "id": "MONDO:0009265", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009265", "name": "Gaucher disease, type 1", "description": "" }, { "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": "Gd 1", "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": "http://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": "http://disease-ontology.org/term/DOID:0110958", "name": "GD II", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110958", "name": "Gaucher Disease, Acute Neuronopathic Type", "description": "" }, { "id": "DOID:0110958", "resource": "Disease Ontology", "url": 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"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": "http://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": "http://disease-ontology.org/term/DOID:0110959", "name": "GD III", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Chronic Neuronopathic Type", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110959", "name": "Gaucher Disease, Juvenile And Adult, Cerebral", "description": "" }, { "id": "DOID:0110959", "resource": "Disease Ontology", "url": "http://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 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"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": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, Norrbottnian type", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3A", "description": "" }, { "id": "MONDO:0009267", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009267", "name": "Gaucher disease, type 3B", "description": "" }, { "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": "Gd 3", "description": "" }, { "id": "MIM:231000", "resource": "MIM", "url": "https://www.omim.org/entry/231000", "name": "Gaucher disease 3", "description": "Gaucher disease 3" } ], 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"id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "GD3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher disease type 3C", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112250", "name": "Gaucher-like disease", "description": "" }, { "id": "DOID:0112250", "resource": "Disease Ontology", "url": "http://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": "Gaucher disease, type 3C", "description": "" }, { "id": "MONDO:0009268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009268", "name": "Gaucher disease, type IIIC", "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": "http://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": "http://disease-ontology.org/term/DOID:12217", "name": "Dementia with Lewy bodies", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Diffuse Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12217", "name": "Lewy body disease", "description": "" }, { "id": "DOID:12217", "resource": "Disease Ontology", "url": "http://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": "Senile dementia of the Lewy body type", "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": "Lewy body variant of Alzheimer disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "dementia, Lewy body", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease", "description": "" }, { "id": "MONDO:0007488", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007488", "name": "diffuse Lewy body disease with gaze palsy", "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": "http://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": "http://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": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset 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"Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://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 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. 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). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" }, { "id": "", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=" } ], "glycoeffect": [], "start_pos": 30, "end_pos": 30, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "L", "sequence_mut": "I", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "1", "chr_pos": "155240657", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L30", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ], "unlinked_id_list": [ "DOID:5166", "DOID:4114", "DOID:2021", "DOID:9460" ], "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1057942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057942" }, { "id": "rs1057942", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057942" }, { "id": "rs1057942", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1057942#frequency_tab" }, { "id": "rs1057942", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1057942" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 310, "end_pos": 310, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155237412", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04062", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P04062" }, { "id": "rs1057942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057942" }, { "id": "rs1057942", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1057942" }, { "id": "rs1057942", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1057942#frequency_tab" }, { "id": "rs1057942", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1057942" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 310, "end_pos": 310, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "G", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->G).", "chr_id": "1", "chr_pos": "155237412", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S310", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "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": 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