{ "batchid": 6, "recordid": "P54802-1", "recordtype": "protein", "sections": { "snv": [ { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "rs2143099180", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143099180" }, { "id": "rs2143099180", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143099180" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 309, "end_pos": 309, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "H", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541110", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Y309", "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": "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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": "rs775561029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775561029" }, { "id": "rs775561029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775561029" }, { "id": "rs775561029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775561029#frequency_tab" }, { "id": "rs775561029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775561029" } ], "glycoeffect": [], "start_pos": 310, "end_pos": 310, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541114", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775561029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775561029" }, { "id": "rs775561029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775561029" }, { "id": "rs775561029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775561029#frequency_tab" }, { "id": "rs775561029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775561029" } ], "glycoeffect": [], "start_pos": 310, "end_pos": 310, "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541114", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1480640960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1480640960" }, { "id": "rs1480640960", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1480640960" } ], "glycoeffect": [], "start_pos": 310, "end_pos": 310, "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541113", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775561029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775561029" }, { "id": "rs775561029", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775561029" }, { "id": "rs775561029", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775561029#frequency_tab" }, { "id": "rs775561029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775561029" } ], "glycoeffect": [], "start_pos": 310, "end_pos": 310, "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541114", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G310", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1292183345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292183345" }, { "id": "rs1292183345", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292183345" } ], "glycoeffect": [], "start_pos": 311, "end_pos": 311, "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541117", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A311", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2510656576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510656576" } ], "glycoeffect": [], "start_pos": 312, "end_pos": 312, "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541120", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D312", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1258320823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1258320823" }, { "id": "rs1258320823", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1258320823" } ], "glycoeffect": [], "start_pos": 312, "end_pos": 312, "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541121", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D312", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1052471595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1052471595" } ], "glycoeffect": [], "start_pos": 312, "end_pos": 312, "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541119", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D312", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "rs1052471595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1052471595" }, { "id": "rs1052471595", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1052471595#frequency_tab" }, { "id": "rs1052471595", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1052471595" } ], "glycoeffect": [], "start_pos": 312, "end_pos": 312, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "D", "sequence_mut": "N", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541119", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D312", "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" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs2092920701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092920701" }, { "id": "rs2092920701", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092920701" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 313, "end_pos": 313, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541122", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T313", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1181487342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181487342" }, { "id": "rs1181487342", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1181487342" } ], "glycoeffect": [], "start_pos": 314, "end_pos": 314, "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541126", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs104894600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894600" }, { "id": "rs104894600", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104894600" }, { "id": "rs118204025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs118204025" }, { "id": "rs118204025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs118204025" }, { "id": "12202988", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12202988" } ], "glycoeffect": [], "start_pos": 314, "end_pos": 314, "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541125", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F314", "disease": [ { "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" } ] }, { "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" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1181487342", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1181487342" }, { "id": "rs1181487342", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1181487342" } ], "glycoeffect": [], "start_pos": 314, "end_pos": 314, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541126", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F314", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs104894600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs104894600" }, { "id": "rs104894600", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs104894600" } ], "glycoeffect": [], "start_pos": 314, "end_pos": 314, "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541125", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F314", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2143099421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143099421" } ], "glycoeffect": [], "start_pos": 314, "end_pos": 314, "sequence_org": "F", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541127", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1193928866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1193928866" }, { "id": "rs1193928866", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1193928866#frequency_tab" }, { "id": "rs1193928866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1193928866" } ], "glycoeffect": [], "start_pos": 315, "end_pos": 315, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541129", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N315", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs797044751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs797044751" } ], "glycoeffect": [], "start_pos": 315, "end_pos": 315, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541129", "ref_nt": "p", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N315", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2143099484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143099484" }, { "id": "rs2143099484", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143099484" } ], "glycoeffect": [], "start_pos": 316, "end_pos": 316, "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541131", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E316", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2510656601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510656601" } ], "glycoeffect": [], "start_pos": 317, "end_pos": 317, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541136", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M317", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2510656598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510656598" } ], "glycoeffect": [], "start_pos": 317, "end_pos": 317, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541134", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M317", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1424367377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424367377" }, { "id": "rs1424367377", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424367377" } ], "glycoeffect": [], "start_pos": 318, "end_pos": 318, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541137", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q318", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2143099555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143099555" } ], "glycoeffect": [], "start_pos": 318, "end_pos": 318, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541138_42541142", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q318", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2510656611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510656611" } ], "glycoeffect": [], "start_pos": 319, "end_pos": 319, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541141", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P319", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092906004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092906004" } ], "glycoeffect": [], "start_pos": 31, "end_pos": 31, "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42536364", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A31", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092906004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092906004" }, { "id": "rs2092906004", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092906004#frequency_tab" } ], "glycoeffect": [], "start_pos": 31, "end_pos": 31, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42536364", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A31", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "rs2092920790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092920790" }, { "id": "rs2092920790", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092920790#frequency_tab" }, { "id": "rs2092920790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092920790" } ], "glycoeffect": [], "start_pos": 320, "end_pos": 320, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541144", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P320", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ], "unlinked_id_list": [ "DOID:1659", "DOID:4203", "DOID:368", "DOID:3541", "DOID:4706" ], "evidence": [ { "id": "1319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1319" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "rs2092920803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092920803" }, { "id": "rs2092920803", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092920803" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 321, "end_pos": 321, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541147", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S321", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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": "rs1320939608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320939608" }, { "id": "rs1320939608", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1320939608#frequency_tab" } ], "glycoeffect": [], "start_pos": 321, "end_pos": 321, "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541146", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S321", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766374195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766374195" }, { "id": "rs766374195", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766374195" }, { "id": "rs766374195", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766374195#frequency_tab" }, { "id": "rs766374195", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766374195" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 322, "end_pos": 322, "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541150", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs766374195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766374195" }, { "id": "rs766374195", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs766374195" }, { "id": "rs766374195", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs766374195#frequency_tab" }, { "id": "rs766374195", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs766374195" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 322, "end_pos": 322, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541150", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S322", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1474272372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474272372" }, { "id": "rs1474272372", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1474272372#frequency_tab" }, { "id": "rs1474272372", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1474272372" } ], "glycoeffect": [], "start_pos": 323, "end_pos": 323, "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541154", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2510656635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510656635" } ], "glycoeffect": [], "start_pos": 324, "end_pos": 324, "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541156", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P324", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 325, "end_pos": 325, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541159", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S325", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs2092920863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092920863" }, { "id": "rs2092920863", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092920863#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 326, "end_pos": 326, "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541161", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y326", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1599258609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1599258609" }, { "id": "rs1599258609", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1599258609" } ], "glycoeffect": [], "start_pos": 326, "end_pos": 326, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541162", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y326", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "rs776750536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776750536" }, { "id": "rs776750536", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776750536" }, { "id": "rs776750536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776750536" } ], "glycoeffect": [], "start_pos": 327, "end_pos": 327, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "L", "sequence_mut": "F", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541164", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "L327", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "start_pos": 328, "end_pos": 328, "subjects_tested": "2053", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541168", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A328", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://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": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "unlinked_id_list": [ "DOID:3451", "DOID:3149" ], "evidence": [ { "id": "4159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4159" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs765774149", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765774149" }, { "id": "rs765774149", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765774149" }, { "id": "rs765774149", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765774149#frequency_tab" }, { "id": "rs765774149", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765774149" } ], "glycoeffect": [], "start_pos": 329, "end_pos": 329, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541170", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A329", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2510649807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510649807" } ], "glycoeffect": [], "start_pos": 32, "end_pos": 32, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42536367", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V32", "disease": [ { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092906013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092906013" }, { "id": "rs2092906013", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092906013" } ], "glycoeffect": [], "start_pos": 32, "end_pos": 32, "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42536366", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V32", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=" } ], "glycoeffect": [], "start_pos": 330, "end_pos": 330, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "A", "sequence_mut": "T", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541173", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A330", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs1324196363", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1324196363" }, { "id": "rs1324196363", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1324196363#frequency_tab" } ], "glycoeffect": [], "start_pos": 330, "end_pos": 330, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541174", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1396937813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1396937813" }, { "id": "rs1396937813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1396937813" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 332, "end_pos": 332, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541179", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T332", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs758715395", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758715395" }, { "id": "rs758715395", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758715395" }, { "id": "rs758715395", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758715395" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 332, "end_pos": 332, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541180", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T332", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1034859936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1034859936" }, { "id": "rs1034859936", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1034859936" } ], "glycoeffect": [], "start_pos": 333, "end_pos": 333, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541182", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092920966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092920966" }, { "id": "rs2092920966", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092920966#frequency_tab" } ], "glycoeffect": [], "start_pos": 333, "end_pos": 333, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541183", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A333", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2510656745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510656745" } ], "glycoeffect": [], "start_pos": 333, "end_pos": 333, "sequence_org": "A", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541183_42541199", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A333", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs749140168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749140168" }, { "id": "rs749140168", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749140168" }, { "id": "rs749140168", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749140168#frequency_tab" }, { "id": "rs749140168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749140168" } ], "glycoeffect": [], "start_pos": 334, "end_pos": 334, "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541185", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V334", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "rs749140168", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749140168" }, { "id": "rs749140168", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749140168" }, { "id": "rs749140168", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749140168#frequency_tab" }, { "id": "rs749140168", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749140168" } ], "glycoeffect": [], "start_pos": 334, "end_pos": 334, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541185", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "V334", "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": "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "rs768918822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768918822" }, { "id": "rs768918822", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768918822#frequency_tab" }, { "id": "rs768918822", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768918822" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 335, "end_pos": 335, "subjects_tested": "4799", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "Y", "sequence_mut": "C", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541189", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "Y335", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://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:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "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:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "unlinked_id_list": [ "DOID:4765" ], "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID: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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs768918822", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768918822" }, { "id": "rs768918822", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768918822#frequency_tab" }, { "id": "rs768918822", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768918822" } ], "glycoeffect": [], "start_pos": 335, "end_pos": 335, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541189", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y335", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs376090795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376090795" }, { "id": "rs376090795", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376090795" }, { "id": "rs376090795", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376090795#frequency_tab" }, { "id": "rs376090795", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376090795" } ], "glycoeffect": [], "start_pos": 336, "end_pos": 336, "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541191", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E336", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1483467536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483467536" }, { "id": "rs1483467536", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483467536" } ], "glycoeffect": [], "start_pos": 337, "end_pos": 337, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541194", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A337", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs745434298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745434298" }, { "id": "rs745434298", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745434298" }, { "id": "rs745434298", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745434298" } ], "glycoeffect": [], "start_pos": 338, "end_pos": 338, "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541199", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1209808701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1209808701" }, { "id": "rs1209808701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1209808701" } ], "glycoeffect": [], "start_pos": 338, "end_pos": 338, "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541197", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196007331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196007331" }, { "id": "rs1196007331", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196007331" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 339, "end_pos": 339, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541201", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T339", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs755652019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755652019" }, { "id": "rs755652019", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755652019" }, { "id": "rs755652019", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755652019" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 339, "end_pos": 339, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541200", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T339", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1196007331", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1196007331" }, { "id": "rs1196007331", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1196007331" } ], "glycoeffect": [], "start_pos": 339, "end_pos": 339, "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541201", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T339", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" } ], "glycoeffect": [], "start_pos": 340, "end_pos": 340, "subjects_tested": "3601", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "E", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42541204", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A340", "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": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs780187288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780187288" }, { "id": "rs780187288", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780187288" }, { "id": "rs780187288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780187288#frequency_tab" }, { "id": "rs780187288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780187288" } ], "glycoeffect": [], "start_pos": 340, "end_pos": 340, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541203", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs780187288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780187288" }, { "id": "rs780187288", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780187288" }, { "id": "rs780187288", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780187288#frequency_tab" }, { "id": "rs780187288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780187288" } ], "glycoeffect": [], "start_pos": 340, "end_pos": 340, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42541203", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A340", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2510658578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510658578" } ], "glycoeffect": [], "start_pos": 342, "end_pos": 342, "sequence_org": "D", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543031", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D342", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1469114327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1469114327" }, { "id": "rs1469114327", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1469114327" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 343, "end_pos": 343, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543034", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T343", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2510658591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510658591" } ], "glycoeffect": [], "start_pos": 344, "end_pos": 344, "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543037", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "E344", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092925460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092925460" }, { "id": "rs2092925460", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092925460#frequency_tab" } ], "glycoeffect": [], "start_pos": 345, "end_pos": 345, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543039", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092925466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092925466" }, { "id": "rs2092925466", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092925466#frequency_tab" } ], "glycoeffect": [], "start_pos": 345, "end_pos": 345, "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543040", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A345", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092925475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092925475" }, { "id": "rs2092925475", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092925475" } ], "glycoeffect": [], "start_pos": 346, "end_pos": 346, "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543042", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V346", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2510658609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510658609" } ], "glycoeffect": [], "start_pos": 347, "end_pos": 347, "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543047", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W347", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2510658609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510658609" } ], "glycoeffect": [], "start_pos": 347, "end_pos": 347, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543047", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W347", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2092925480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092925480" }, { "id": "rs2092925480", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092925480" } ], "glycoeffect": [], "start_pos": 348, "end_pos": 348, "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543049", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L348", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs746052542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746052542" }, { "id": "rs746052542", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746052542" }, { "id": "rs746052542", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746052542" } ], "glycoeffect": [], "start_pos": 349, "end_pos": 349, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543051", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L349", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs2092906031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092906031" }, { "id": "rs2092906031", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2092906031" } ], "glycoeffect": [], "start_pos": 34, "end_pos": 34, "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42536372", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A34", "disease": [ { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs376582504", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376582504" }, { "id": "rs376582504", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376582504" }, { "id": "rs376582504", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376582504#frequency_tab" }, { "id": "rs376582504", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376582504" } ], "glycoeffect": [], "start_pos": 351, "end_pos": 351, "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543058", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G351", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1231094627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1231094627" }, { "id": "rs1231094627", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1231094627" } ], "glycoeffect": [], "start_pos": 352, "end_pos": 352, "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543062", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "W352", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1417836116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1417836116" }, { "id": "rs1417836116", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1417836116#frequency_tab" }, { "id": "rs1417836116", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1417836116" } ], "glycoeffect": [], "start_pos": 353, "end_pos": 353, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543063", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L353", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1417836116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1417836116" }, { "id": "rs1417836116", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1417836116#frequency_tab" }, { "id": "rs1417836116", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1417836116" } ], "glycoeffect": [], "start_pos": 353, "end_pos": 353, "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543063", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L353", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs769268314", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769268314" }, { "id": "rs769268314", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769268314" }, { "id": "rs769268314", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769268314" } ], "glycoeffect": [], "start_pos": 354, "end_pos": 354, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543067", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762923760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762923760" }, { "id": "rs762923760", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762923760" } ], "glycoeffect": [], "start_pos": 354, "end_pos": 354, "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543066", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774687078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774687078" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543069", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q355", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs774687078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774687078" }, { "id": "rs774687078", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774687078" }, { "id": "rs774687078", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774687078#frequency_tab" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543069", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1323512718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1323512718" }, { "id": "rs1323512718", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1323512718" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543071", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774687078", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774687078" }, { "id": "rs774687078", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774687078" }, { "id": "rs774687078", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774687078#frequency_tab" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543069", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762284756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762284756" }, { "id": "rs762284756", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762284756" }, { "id": "rs762284756", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762284756" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543070", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q355", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1180591588", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1180591588" } ], "glycoeffect": [], "start_pos": 355, "end_pos": 355, "sequence_org": "Q", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543069", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Q355", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs201869866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201869866" }, { "id": "rs201869866", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201869866" }, { "id": "rs201869866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201869866" } ], "glycoeffect": [], "start_pos": 356, "end_pos": 356, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543073", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201869866", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201869866" }, { "id": "rs201869866", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201869866" }, { "id": "rs201869866", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201869866" } ], "glycoeffect": [], "start_pos": 356, "end_pos": 356, "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543073", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H356", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "rs368687817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368687817" }, { "id": "rs368687817", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs368687817" }, { "id": "rs368687817", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368687817" }, { "id": "rs368687817", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368687817#frequency_tab" }, { "id": "rs368687817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368687817" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "subjects_tested": "1704", "subjects_positive": "1", "frequency": "0.1", "sequence_org": "P", "sequence_mut": "L", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42543079", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P358", "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" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": "rs2510658718", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510658718" } ], "glycoeffect": [], "start_pos": 358, "end_pos": 358, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543078", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P358", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs2143075651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2143075651" }, { "id": "rs2143075651", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2143075651" } ], "glycoeffect": [], "start_pos": 35, "end_pos": 35, "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42536375", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L35", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1246249632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1246249632" }, { "id": "rs1246249632", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1246249632#frequency_tab" }, { "id": "rs1246249632", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1246249632" } ], "glycoeffect": [], "start_pos": 35, "end_pos": 35, "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42536376", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L35", "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": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "CMT2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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": "http://disease-ontology.org/term/DOID:0110178", "name": "Charcot-Marie-Tooth neuropathy type 2V", "description": "" }, { "id": "DOID:0110178", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110178", "name": "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene." }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "CMT2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease caused by mutation in NAGLU", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "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": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "hereditary adult-onset painful axonal polyneuropathy", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "" }, { "id": "MONDO:0014665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014665", "name": "Charcot-Marie-Tooth neuropathy, type 2V", "description": "" }, { "id": "MIM:616491", "resource": "MIM", "url": "https://www.omim.org/entry/616491", "name": "Charcot-Marie-Tooth disease, axonal, type 2V", "description": "Charcot-Marie-Tooth disease, axonal, type 2V" } ], "unlinked_id_list": [], "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "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" } ] }, { "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" } ] }, { "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": [ "ebi", "germline", "disease" ] } ] } }