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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. 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"Sanfilippo syndrome B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo syndrome type B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis type IIIB (Sanfilippo B)", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS IIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Mucopoly-saccharidosis type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-Acetyl-Alpha-D-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "NAGLU deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type 3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "mucopolysaccharidosis, type IIIB", "description": "" }, { "id": "MIM:252920", "resource": "MIM", "url": "https://www.omim.org/entry/252920", "name": "Mucopolysaccharidosis 3B", "description": "Mucopolysaccharidosis 3B" } ], "unlinked_id_list": [], "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs1215582852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1215582852" }, { "id": "rs1215582852", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1215582852#frequency_tab" }, { "id": "rs1215582852", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1215582852" } ], "glycoeffect": [], "start_pos": 591, "end_pos": 591, "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543778", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L591", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1274337932", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1274337932" }, { "id": "rs1274337932", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1274337932#frequency_tab" }, { "id": "rs1274337932", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1274337932" } ], "glycoeffect": [], "start_pos": 593, "end_pos": 593, "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543784", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R593", "disease": [ { "disease_id": "DOID:0110178", "recommended_name": { "id": 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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": 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It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS III B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPS3B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "MPSIIIB", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "N-acetyl-alpha-glucosaminidase deficiency", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": "Sanfilippo B", "description": "" }, { "id": "MONDO:0009656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656", "name": 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"https://www.ncbi.nlm.nih.gov/snp/rs773277748#frequency_tab" }, { "id": "rs773277748", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773277748" } ], "glycoeffect": [], "start_pos": 595, "end_pos": 595, "subjects_tested": "2670", "subjects_positive": "1", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "All mutations pass selection filters for glycohydrolase proteins.", "chr_id": "17", "chr_pos": "42543789", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "G595", "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", 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