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autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. 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"Sanfilippo syndrome B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "NAGLU deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "rs775364669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775364669" }, { "id": "rs775364669", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775364669" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 278, "end_pos": 278, "subjects_tested": "720", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "42541018", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S278", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "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, 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" } ] }, { "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": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "disease_id": "DOID:0110178", "recommended_name": { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21." }, "synonyms": [ { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": 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"url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "NAGLU Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": 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"name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "NAGLU deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] }, { "disease_id": "DOID:0111394", "recommended_name": { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2." }, "synonyms": [ { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "MPS3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "MPSIIIB", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "Mucopolysaccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "NAGLU deficiency", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS III B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPSIIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "NAGLU deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs200625281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200625281" }, { "id": "rs200625281", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200625281" }, { "id": "rs200625281", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200625281" }, { "id": "rs200625281", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200625281" } ], "glycoeffect": [], "start_pos": 297, "end_pos": 297, "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541075", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000196232", "site_lbl": "R297", "disease": [ { "disease_id": "DOID:0110178", "recommended_name": { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21." }, "synonyms": [ { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": 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It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS III B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPSIIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "NAGLU deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ], "keywords": [ "ebi", "germline", "disease" ] } ] } }