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"name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "NAGLU deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] }, { "disease_id": "DOID:0111394", "recommended_name": { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2." }, "synonyms": [ { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "MPS3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "MPSIIIB", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "Mucopolysaccharidosis type 3B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "NAGLU deficiency", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "DOID:0111394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111394", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS III B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPSIIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "NAGLU deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs886042073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886042073" }, { "id": "rs886042073", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs886042073#frequency_tab" }, { "id": "rs886042073", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs886042073" } ], "glycoeffect": [], "start_pos": 234, "end_pos": 234, "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42538692", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R234", "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": 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"Sanfilippo syndrome B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "NAGLU deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] }, { "evidence": [ { "id": "rs2092913870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092913870" }, { "id": "rs2092913870", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092913870" } ], "glycoeffect": [], "start_pos": 241, "end_pos": 241, "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42538713", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "V241", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P54802", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P54802" }, { "id": "rs2092913856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2092913856" }, { "id": "rs2092913856", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2092913856#frequency_tab" }, { "id": "rs2092913856", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2092913856" } ], "glycoeffect": [], "start_pos": 241, "end_pos": 241, "subjects_tested": "589", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "V", "sequence_mut": "L", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42538712", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": 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