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"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" ] }, { "evidence": [ { "id": "Q14315", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14315" } ], "glycoeffect": [], "start_pos": 850, "end_pos": 850, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "H", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "7", "chr_pos": "128842954", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "Q850", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": 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}, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q14315", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14315" } ], "glycoeffect": [], "start_pos": 938, "end_pos": 938, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "7", "chr_pos": "128843796", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G938", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs762326127", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762326127" }, { "id": "rs762326127", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762326127" }, { "id": "rs762326127", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762326127" }, { "id": "rs762326127", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs762326127" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 93, "end_pos": 93, "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 filters: n-glyco-sequon-gain (NFR->NFC).", "chr_id": "7", "chr_pos": "128830914", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R93", "keywords": [ "ebi", "somatic", "disease" ], "disease": [ { "disease_id": "DOID:0111190", "recommended_name": { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy 4", "description": "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32." }, "synonyms": [ { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "MPD4", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal muscular dystrophy 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "myopathy, distal, type 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "MPD4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "myopathy, distal, 4", "description": "" }, { "id": "MIM:614065", "resource": "MIM", "url": "https://www.omim.org/entry/614065", "name": "Myopathy, distal, 4", "description": "Myopathy, distal, 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111190" }, { "id": "0111190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111190" } ] }, { "disease_id": "DOID:0110327", "recommended_name": { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "hypertrophic cardiomyopathy 26", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "CMH26", "description": "" }, { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "cardiomyopathy familial hypertrophic 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy 26", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene." }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "CMH26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "FLNC hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial hypertrophic, 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial hypertrophic, type 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial restrictive 5", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy type 26", "description": "" }, { "id": "MIM:617047", "resource": "MIM", "url": "https://www.omim.org/entry/617047", "name": "Cardiomyopathy, familial hypertrophic, 26", "description": "Cardiomyopathy, familial hypertrophic, 26" } ], "unlinked_id_list": [], "evidence": [ { "id": "617047", "database": "MIM", "url": "https://www.omim.org/entry/617047" }, { "id": "0110327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110327" } ] }, { "disease_id": "DOID:0080096", "recommended_name": { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080096", "name": "myofibrillar myopathy 5", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080096", "name": "filaminopathy", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "MFM5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, 5", "description": "" }, { "id": "MIM:609524", "resource": "MIM", "url": "https://www.omim.org/entry/609524", "name": "Myopathy, myofibrillar, 5", "description": "Myopathy, myofibrillar, 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" }, { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" } ] } ] }, { "evidence": [ { "id": "Q14315", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14315" } ], "glycoeffect": [], "start_pos": 93, "end_pos": 93, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "P", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "7", "chr_pos": "128830915", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "R93", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:4203", "DOID:3541", "DOID:4706", "DOID:1659", "DOID:368" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q14315", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14315" } ], "glycoeffect": [], "start_pos": 940, "end_pos": 940, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "T", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "7", "chr_pos": "128843803", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "M940", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1334463747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1334463747" }, { "id": "rs1334463747", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1334463747" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 941, "end_pos": 941, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NMA->NMT).", "chr_id": "7", "chr_pos": "128843805", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A941", "keywords": [ "ebi", "germline", "disease" ], "disease": [ { "disease_id": "DOID:0111190", "recommended_name": { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy 4", "description": "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32." }, "synonyms": [ { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "MPD4", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "DOID:0111190", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111190", "name": "distal muscular dystrophy 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal myopathy with posterior leg and anterior hand involvement", "description": "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "distal ABD-filaminopathy", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "myopathy, distal, type 4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "MPD4", "description": "" }, { "id": "MONDO:0013550", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013550", "name": "myopathy, distal, 4", "description": "" }, { "id": "MIM:614065", "resource": "MIM", "url": "https://www.omim.org/entry/614065", "name": "Myopathy, distal, 4", "description": "Myopathy, distal, 4" } ], "unlinked_id_list": [], "evidence": [ { "id": "0111190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111190" }, { "id": "0111190", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111190" } ] }, { "disease_id": "DOID:0110327", "recommended_name": { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "hypertrophic cardiomyopathy 26", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "CMH26", "description": "" }, { "id": "DOID:0110327", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110327", "name": "cardiomyopathy familial hypertrophic 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy 26", "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene." }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "CMH26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "FLNC hypertrophic cardiomyopathy", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial hypertrophic, 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial hypertrophic, type 26", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "cardiomyopathy, familial restrictive 5", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0014883", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014883", "name": "hypertrophic cardiomyopathy type 26", "description": "" }, { "id": "MIM:617047", "resource": "MIM", "url": "https://www.omim.org/entry/617047", "name": "Cardiomyopathy, familial hypertrophic, 26", "description": "Cardiomyopathy, familial hypertrophic, 26" } ], "unlinked_id_list": [], "evidence": [ { "id": "617047", "database": "MIM", "url": "https://www.omim.org/entry/617047" }, { "id": "0110327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110327" } ] }, { "disease_id": "DOID:0080096", "recommended_name": { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080096", "name": "myofibrillar myopathy 5", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32." }, "synonyms": [ { "id": "DOID:0080096", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080096", "name": "filaminopathy", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases." }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myofibrillar myopathy type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, type 5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "MFM5", "description": "" }, { "id": "MONDO:0012289", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012289", "name": "myopathy, myofibrillar, 5", "description": "" }, { "id": "MIM:609524", "resource": "MIM", "url": "https://www.omim.org/entry/609524", "name": "Myopathy, myofibrillar, 5", "description": "Myopathy, myofibrillar, 5" } ], "unlinked_id_list": [], "evidence": [ { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" }, { "id": "0080096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080096" } ] } ] }, { "evidence": [ { "id": "Q14315", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14315" } ], "glycoeffect": [], "start_pos": 942, "end_pos": 942, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "V", "sequence_mut": "M", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "7", "chr_pos": "128843808", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V942", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "GC", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "Q14315", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14315" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 943, "end_pos": 943, "subjects_tested": "4484", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 0 out of 6 filters: .", "chr_id": "7", "chr_pos": "128843811", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T943", "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 breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary 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