Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:mucopolysaccharidosis
go back to main search page
Accession:DOID:12798 term browser browse the term
Definition:A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. (DO)
Synonyms:exact_synonym: mucopolysaccharidoses
 related_synonym: IDUA pseudodeficiency
 primary_id: MESH:D009083
 xref: GARD:7065;   ICD10CM:E76.3;   ICD9CM:277.5;   NCI:C61259;   OMIM:PS607014;   ORDO:79213
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
 
mucopolysaccharidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Mucopolysaccharidoses ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chrNW_004955506:2,711,061...2,744,555
Ensembl chrNW_004955506:2,711,942...2,734,219 		JBrowse link
G Gusb glucuronidase beta disease_progression ISO protein:decreases activity:spleen, kidney, lung (rat) RGD PMID:2879381 RGD:42724461 NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:17033958 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 More... NCBI chrNW_004955457:13,351,963...13,386,521
Ensembl chrNW_004955457:13,349,213...13,387,251 		JBrowse link
G Hyal1 hyaluronidase 1 ISO mucopolysaccharidosis IX, OMIM:601492 DNA:point_mutation,rearrangement:CDS:compound heterozygote G1412A -> amino acid E268K, 1361del37ins14 RGD PMID:10339581 RGD:1599811 NCBI chrNW_004955532:2,113,016...2,116,093
Ensembl chrNW_004955532:2,112,771...2,115,952 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: IDUA pseudodeficiency ClinVar PMID:8554071 PMID:28492532 NCBI chrNW_004955514:474,830...488,007
Ensembl chrNW_004955514:475,731...488,007 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:8650226 PMID:9443875 PMID:9832037 PMID:9950362 PMID:10094189 More... NCBI chrNW_004955451:16,445,338...16,449,243
Ensembl chrNW_004955451:16,445,338...16,450,062 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidoses | ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chrNW_004955506:2,701,901...2,713,431
Ensembl chrNW_004955506:2,701,905...2,711,073 		JBrowse link
mucopolysaccharidosis I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,784,302...1,812,845
Ensembl chrNW_004955514:1,783,814...1,815,917 		JBrowse link
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955404:11,420,964...11,421,171 JBrowse link
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:359,174...376,916
Ensembl chrNW_004955514:359,174...376,916 		JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:630,168...652,817
Ensembl chrNW_004955514:626,645...652,817 		JBrowse link
G CUNH4orf48 chromosome unknown C4orf48 homolog ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,200,732...1,201,730
Ensembl chrNW_004955514:1,200,721...1,213,789 		JBrowse link
G Dgkq diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:452,548...475,240
Ensembl chrNW_004955514:453,886...464,978 		JBrowse link
G Fam193a family with sequence similarity 193 member A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,588,882...1,672,292
Ensembl chrNW_004955514:1,588,894...1,672,292 		JBrowse link
G Fam53a family with sequence similarity 53 member A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:917,344...947,729
Ensembl chrNW_004955514:914,325...947,738 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:499,526...509,208
Ensembl chrNW_004955514:497,573...509,811 		JBrowse link
G Gak cyclin G associated kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:391,305...434,198
Ensembl chrNW_004955514:387,179...434,077 		JBrowse link
G Haus3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,331,838...1,342,128
Ensembl chrNW_004955514:1,327,039...1,341,635 		JBrowse link
G Idua alpha-L-iduronidase treatment ISO ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 RGD
ClinVar		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:1627351 More... RGD:12910497 RGD:12910499 RGD:12910502 RGD:12910503 RGD:12910508 RGD:12910510 RGD:12910716 RGD:12910719 RGD:12910720 NCBI chrNW_004955514:474,830...488,007
Ensembl chrNW_004955514:475,731...488,007 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,040,103...1,069,297
Ensembl chrNW_004955514:1,042,307...1,069,114 		JBrowse link
G Maea macrophage erythroblast attacher, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:689,867...722,779
Ensembl chrNW_004955514:689,868...722,779 		JBrowse link
G Mxd4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,348,602...1,358,092
Ensembl chrNW_004955514:1,345,960...1,358,092 		JBrowse link
G Myl5 myosin light chain 5 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:282,565...289,199 JBrowse link
G Nat8l N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,207,310...1,213,732 JBrowse link
G Nelfa negative elongation factor complex member A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,162,993...1,173,278
Ensembl chrNW_004955514:1,162,993...1,173,278 		JBrowse link
G Nkx1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:763,160...781,635 JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,084,522...1,162,624
Ensembl chrNW_004955514:1,069,085...1,162,624 		JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:307,331...350,039
Ensembl chrNW_004955514:307,332...350,039 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:234,972...279,420
Ensembl chrNW_004955514:234,972...279,420 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis class G ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:119,804...152,603
Ensembl chrNW_004955514:120,287...151,827 		JBrowse link
G Poln DNA polymerase nu ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,214,867...1,342,172
Ensembl chrNW_004955514:1,215,131...1,329,024 		JBrowse link
G Rnf212 ring finger protein 212 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:525,430...559,037
Ensembl chrNW_004955514:525,085...559,153 		JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,501,943...1,525,689
Ensembl chrNW_004955514:1,511,062...1,523,714 		JBrowse link
G Sh3bp2 SH3 domain binding protein 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,700,889...1,730,002
Ensembl chrNW_004955514:1,712,793...1,730,002 		JBrowse link
G Slbp stem-loop binding protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:954,489...968,670
Ensembl chrNW_004955514:955,296...967,327 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 More... NCBI chrNW_004955514:476,062...484,710
Ensembl chrNW_004955514:475,731...479,616 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:289,301...295,443
Ensembl chrNW_004955514:289,874...295,127 		JBrowse link
G Spon2 spondin 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:598,840...603,390
Ensembl chrNW_004955514:596,829...604,051 		JBrowse link
G Tacc3 transforming acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:973,457...986,640
Ensembl chrNW_004955514:975,176...986,686 		JBrowse link
G Tmem129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:968,763...972,918
Ensembl chrNW_004955514:968,763...972,918 		JBrowse link
G Tmem175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:434,283...453,239
Ensembl chrNW_004955514:434,285...453,239 		JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,682,641...1,687,881 JBrowse link
G Uvssa UV stimulated scaffold protein A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:725,257...754,274
Ensembl chrNW_004955514:728,522...756,348 		JBrowse link
G Zfyve28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:1,366,186...1,450,982
Ensembl chrNW_004955514:1,367,067...1,450,909 		JBrowse link
G Znf721 zinc finger protein 721 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chrNW_004955514:10,741...81,730 JBrowse link
mucopolysaccharidosis Ih term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH OMIM
ClinVar		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chrNW_004955514:474,830...488,007
Ensembl chrNW_004955514:475,731...488,007 		JBrowse link
G Pitx1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:25741868 NCBI chrNW_004955408:30,197,374...30,202,887
Ensembl chrNW_004955408:30,197,061...30,203,054 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7951228 More... NCBI chrNW_004955514:476,062...484,710
Ensembl chrNW_004955514:475,731...479,616 		JBrowse link
mucopolysaccharidosis Ih/s term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S OMIM
ClinVar		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:4221470 PMID:7550232 More... NCBI chrNW_004955514:474,830...488,007
Ensembl chrNW_004955514:475,731...488,007 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8213840 PMID:8401515 More... NCBI chrNW_004955514:476,062...484,710
Ensembl chrNW_004955514:475,731...479,616 		JBrowse link
mucopolysaccharidosis II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, mild form | ClinVar Annotator: match by term: Mucopolysaccharidosis, type II, severe form OMIM
ClinVar		 PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 More... NCBI chrNW_004955498:1,863,002...1,886,720
Ensembl chrNW_004955498:1,860,628...1,886,867 		JBrowse link
mucopolysaccharidosis III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chrNW_004955506:2,711,061...2,744,555
Ensembl chrNW_004955506:2,711,942...2,734,219 		JBrowse link
G Coasy Coenzyme A synthase susceptibility ISO DNA:nonsense mutation, splice-site mutation, missense mutations:multiple RGD PMID:11153910 RGD:1642057 NCBI chrNW_004955451:16,457,707...16,460,631
Ensembl chrNW_004955451:16,457,707...16,460,631 		JBrowse link
G Gns glucosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20232353 PMID:25741868 More... NCBI chrNW_004955458:11,471,376...11,500,793
Ensembl chrNW_004955458:11,471,376...11,500,838 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 More... NCBI chrNW_004955457:13,351,963...13,386,521
Ensembl chrNW_004955457:13,349,213...13,387,251 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency ClinVar PMID:21291454 PMID:25741868 PMID:28492532 NCBI chrNW_004955498:1,863,002...1,886,720
Ensembl chrNW_004955498:1,860,628...1,886,867 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:8650226 PMID:9443875 PMID:9950362 PMID:10094189 PMID:14984474 More... NCBI chrNW_004955451:16,445,338...16,449,243
Ensembl chrNW_004955451:16,445,338...16,450,062 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chrNW_004955506:2,701,901...2,713,431
Ensembl chrNW_004955506:2,701,905...2,711,073 		JBrowse link
mucopolysaccharidosis IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome ClinVar PMID:7633425 PMID:7668283 PMID:7795586 PMID:8829629 PMID:9298823 More... NCBI chrNW_004955541:2,691,103...2,711,137
Ensembl chrNW_004955541:2,691,103...2,710,696 		JBrowse link
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chrNW_004955421:342,631...346,581
Ensembl chrNW_004955421:342,631...346,581 		JBrowse link
mucopolysaccharidosis IVA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,837,487...2,876,220
Ensembl chrNW_004955541:2,837,448...2,876,316 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,921,230...3,033,612
Ensembl chrNW_004955541:2,919,631...2,961,445 		JBrowse link
G Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906 		JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,169,303...2,256,779
Ensembl chrNW_004955541:2,169,303...2,256,779 		JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,141,450...2,159,955
Ensembl chrNW_004955541:2,139,920...2,160,597 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,724,369...2,777,540
Ensembl chrNW_004955541:2,724,312...2,777,592 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,881,374...2,893,885
Ensembl chrNW_004955541:2,881,525...2,893,653 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004955541:2,683,030...2,687,883
Ensembl chrNW_004955541:2,683,408...2,687,102 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:3,216,972...3,223,636
Ensembl chrNW_004955541:3,216,972...3,223,634 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:3,159,485...3,170,304
Ensembl chrNW_004955541:3,159,818...3,170,428 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,610,021...2,618,197 JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:3,204,421...3,215,514
Ensembl chrNW_004955541:3,204,055...3,215,565 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:7581409 PMID:7633425 PMID:7668283 PMID:7795586 More... NCBI chrNW_004955541:2,691,103...2,711,137
Ensembl chrNW_004955541:2,691,103...2,710,696 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,568,941...2,570,440
Ensembl chrNW_004955541:2,568,941...2,570,440 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:1,969,197...2,020,868
Ensembl chrNW_004955541:1,969,194...2,017,588 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,026,554...2,065,627
Ensembl chrNW_004955541:2,026,771...2,065,462 		JBrowse link
G LOC102004641 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821 		JBrowse link
G Pabpn1l PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,718,076...2,720,322
Ensembl chrNW_004955541:2,718,076...2,720,322 		JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004955541:2,618,167...2,655,349
Ensembl chrNW_004955541:2,618,438...2,643,771 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,604,197...2,607,969
Ensembl chrNW_004955541:2,605,096...2,608,866 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:3,149,438...3,152,210
Ensembl chrNW_004955541:3,149,438...3,152,210 		JBrowse link
G Slc22a31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,894,053...2,897,032
Ensembl chrNW_004955541:2,892,495...2,896,840 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310 		JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,593,530...2,599,105
Ensembl chrNW_004955541:2,593,351...2,599,175 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chrNW_004955541:2,711,051...2,715,458
Ensembl chrNW_004955541:2,710,938...2,718,804 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,531,230...2,566,959
Ensembl chrNW_004955541:2,524,499...2,567,203 		JBrowse link
G Zfpm1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,461,690...2,495,614 JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004955541:2,404,549...2,438,183 JBrowse link
mucopolysaccharidosis IX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase OMIM
ClinVar		 PMID:8793927 PMID:10339581 PMID:21559944 PMID:25741868 PMID:27424109 More... NCBI chrNW_004955532:2,113,016...2,116,093
Ensembl chrNW_004955532:2,112,771...2,115,952 		JBrowse link
mucopolysaccharidosis type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Card14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chrNW_004955506:2,711,061...2,744,555
Ensembl chrNW_004955506:2,711,942...2,734,219 		JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9536098 PMID:16465621 PMID:17576681 PMID:19617216 PMID:19938078 More... NCBI chrNW_004955405:37,107,902...37,136,993
Ensembl chrNW_004955405:37,107,542...37,136,993 		JBrowse link
G Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:1303211 PMID:1550586 PMID:8318991 PMID:18414213 PMID:21291454 More... NCBI chrNW_004955498:1,863,002...1,886,720
Ensembl chrNW_004955498:1,860,628...1,886,867 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A OMIM
ClinVar		 PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9536098 More... NCBI chrNW_004955506:2,701,901...2,713,431
Ensembl chrNW_004955506:2,701,905...2,711,073 		JBrowse link
mucopolysaccharidosis type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B OMIM
ClinVar		 PMID:8650226 PMID:9443875 PMID:9443878 PMID:9536098 PMID:9832037 More... NCBI chrNW_004955451:16,445,338...16,449,243
Ensembl chrNW_004955451:16,445,338...16,450,062 		JBrowse link
mucopolysaccharidosis type IIIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:28492532 NCBI chrNW_004955457:13,260,825...13,294,025
Ensembl chrNW_004955457:13,260,545...13,294,025 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 More... NCBI chrNW_004955457:13,351,963...13,386,521
Ensembl chrNW_004955457:13,349,213...13,387,251 		JBrowse link
G Pomk protein O-mannose kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C ClinVar PMID:17033958 PMID:19479962 PMID:28492532 NCBI chrNW_004955457:13,299,176...13,318,535
Ensembl chrNW_004955457:13,309,564...13,317,825 		JBrowse link
mucopolysaccharidosis type IIID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH12orf56 chromosome unknown C12orf56 homolog ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004955458:11,091,456...11,144,074
Ensembl chrNW_004955458:11,093,502...11,174,104 		JBrowse link
G Gns glucosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D OMIM
ClinVar		 PMID:3100754 PMID:6450420 PMID:9536098 PMID:12573255 PMID:12624138 More... NCBI chrNW_004955458:11,471,376...11,500,793
Ensembl chrNW_004955458:11,471,376...11,500,838 		JBrowse link
G Kics2 KICSTOR subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004955458:11,027,550...11,048,563
Ensembl chrNW_004955458:11,025,291...11,048,567 		JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:25741868 NCBI chrNW_004955538:1,588,990...1,621,852 JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004955458:12,004,928...12,159,625
Ensembl chrNW_004955458:12,004,806...12,159,954 		JBrowse link
G Rassf3 Ras association domain family member 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004955458:11,400,655...11,451,796
Ensembl chrNW_004955458:11,441,054...11,449,423 		JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004955458:10,649,364...10,674,913
Ensembl chrNW_004955458:10,648,471...10,676,813 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004955458:10,842,745...10,991,500
Ensembl chrNW_004955458:10,841,896...10,991,500 		JBrowse link
G Tbc1d30 TBC1 domain family member 30 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004955458:11,531,066...11,617,765
Ensembl chrNW_004955458:11,530,920...11,617,765 		JBrowse link
G Tbk1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004955458:11,210,120...11,263,632
Ensembl chrNW_004955458:11,211,398...11,263,867 		JBrowse link
G Wif1 WNT inhibitory factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004955458:11,755,147...11,834,047
Ensembl chrNW_004955458:11,754,120...11,834,047 		JBrowse link
G Xpot exportin for tRNA ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004955458:11,162,612...11,206,515
Ensembl chrNW_004955458:11,162,782...11,208,849 		JBrowse link
mucopolysaccharidosis type IVB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B OMIM
ClinVar		 PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... NCBI chrNW_004955421:230,957...311,504
Ensembl chrNW_004955421:231,076...312,500 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chrNW_004955421:342,631...346,581
Ensembl chrNW_004955421:342,631...346,581 		JBrowse link
mucopolysaccharidosis VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO protein:increased expression:intervertebral disk RGD PMID:23192728 RGD:10043113 NCBI chrNW_004955407:26,597,165...26,643,972
Ensembl chrNW_004955407:26,603,479...26,643,103 		JBrowse link
G Ap3b1 adaptor related protein complex 3 subunit beta 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chrNW_004955425:22,792,616...23,051,509
Ensembl chrNW_004955425:22,792,616...23,051,737 		JBrowse link
G Arsb arylsulfatase B treatment
susceptibility		 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe OMIM
ClinVar
RGD		 PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 More... RGD:1599228 RGD:39131283 RGD:631738 NCBI chrNW_004955425:22,120,507...22,281,221
Ensembl chrNW_004955425:22,119,930...22,279,006 		JBrowse link
G Gusb glucuronidase beta ISO ClinVar Annotator: match by term: Maroteaux Lamy syndrome ClinVar PMID:7573038 PMID:8089138 PMID:8644704 PMID:9490302 PMID:9921904 More... NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252 		JBrowse link
G Lhfpl2 LHFPL tetraspan subfamily member 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chrNW_004955425:22,398,503...22,556,667
Ensembl chrNW_004955425:22,504,107...22,557,970 		JBrowse link
G Scamp1 secretory carrier membrane protein 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chrNW_004955425:22,562,336...22,686,661
Ensembl chrNW_004955425:22,564,978...22,686,564 		JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tnfsf11 TNF superfamily member 11 treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chrNW_004955518:431,401...462,063
Ensembl chrNW_004955518:430,642...462,705 		JBrowse link
Mucopolysaccharidosis X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsk arylsulfatase family member K ISO ClinVar Annotator: match by term: ARSK DEFICIENCY OMIM
ClinVar		 PMID:34916232 NCBI chrNW_004955418:16,959,736...16,989,293
Ensembl chrNW_004955418:16,956,754...16,989,593 		JBrowse link
Mucopolysaccharidosis-Plus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps33a VPS33A core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome OMIM
ClinVar		 PMID:25741868 PMID:27547915 PMID:28013294 PMID:31070736 NCBI chrNW_004955482:6,333,282...6,352,369
Ensembl chrNW_004955482:6,332,366...6,353,834 		JBrowse link
Scheie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome OMIM
ClinVar		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chrNW_004955514:474,830...488,007
Ensembl chrNW_004955514:475,731...488,007 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More... NCBI chrNW_004955514:476,062...484,710
Ensembl chrNW_004955514:475,731...479,616 		JBrowse link
Sly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO ClinVar Annotator: match by term: Sly syndrome ClinVar PMID:19224584 PMID:28492532 NCBI chrNW_004955456:8,409,767...8,419,915
Ensembl chrNW_004955456:8,411,220...8,416,992 		JBrowse link
G Gusb glucuronidase beta ISO ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Sly syndrome OMIM
ClinVar		 PMID:144057 PMID:1702266 PMID:1833732 PMID:1992472 PMID:6811712 More... NCBI chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13423
    Nutritional and Metabolic Diseases 5299
      disease of metabolism 5299
        inherited metabolic disorder 3679
          carbohydrate metabolic disorder 1866
            mucopolysaccharidosis 104
              Mucopolysaccharidoses, Unclassified Types 0
              Mucopolysaccharidosis VIII 0
              Mucopolysaccharidosis X 1
              Mucopolysaccharidosis-Plus Syndrome 1
              Sly syndrome 2
              mucopolysaccharidosis I + 40
              mucopolysaccharidosis II 1
              mucopolysaccharidosis III + 21
              mucopolysaccharidosis IV + 31
              mucopolysaccharidosis IX 1
              mucopolysaccharidosis VI 8
Path 2
Term Annotations click to browse term
  disease 13423
    Developmental Disease 10970
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9888
        genetic disease 9498
          inherited metabolic disorder 3679
            lysosomal storage disease 697
              mucopolysaccharidosis 104
                Mucopolysaccharidoses, Unclassified Types 0
                Mucopolysaccharidosis VIII 0
                Mucopolysaccharidosis X 1
                Mucopolysaccharidosis-Plus Syndrome 1
                Sly syndrome 2
                mucopolysaccharidosis I + 40
                mucopolysaccharidosis II 1
                mucopolysaccharidosis III + 21
                mucopolysaccharidosis IV + 31
                mucopolysaccharidosis IX 1
                mucopolysaccharidosis VI 8
paths to the root