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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
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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.


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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_004936594:4,174,258...4,195,165 JBrowse link
G Gusb glucuronidase beta disease_progression ISO protein:decreases activity:spleen, kidney, lung (rat) RGD PMID:2879381 RGD:42724461 NCBI chrNW_004936543:7,721,273...7,732,468 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_004936570:257,636...297,797 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_004936529:1,838,212...1,842,399 JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: IDUA pseudodeficiency ClinVar PMID:8554071 PMID:28492532 NCBI chrNW_004936477:22,200,471...22,215,473 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_004936490:17,305,033...17,312,167 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_004936594:4,195,217...4,203,802 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_004936477:20,695,109...20,766,053 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_004936477:22,416,505...22,417,543 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_004936477:22,315,827...22,338,488 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_004936477:22,032,712...22,055,160 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_004936477:22,225,624...22,238,825 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_004936477:20,874,889...20,964,328 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_004936477:21,688,240...21,719,612 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_004936477:21,591,772...21,606,289 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_004936477:22,177,473...22,189,554 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_004936477:22,254,109...22,300,827 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_004936477:21,250,707...21,265,997 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_004936477:22,200,471...22,215,473 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_004936477:21,550,104...21,589,662 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_004936477:21,959,465...21,996,395 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_004936477:21,233,026...21,246,202 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_004936477:22,410,303...22,416,940 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_004936477:21,397,729...21,405,098 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_004936477:21,442,493...21,459,999 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_004936477:21,909,542...21,910,599 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_004936477:21,460,442...21,531,563 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_004936477:22,349,166...22,373,256 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_004936477:22,418,037...22,472,251 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_004936477:22,524,227...22,563,536 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_004936477:21,268,236...21,396,526 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_004936477:22,122,854...22,173,324 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_004936477:21,025,040...21,055,821 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_004936477:20,774,386...20,794,958 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_004936477:21,672,143...21,680,899 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_004936477:22,209,445...22,213,592 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_004936477:22,403,186...22,410,563 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_004936477:22,087,450...22,093,677 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_004936477:21,648,958...21,665,855 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_004936477:21,665,955...21,670,667 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_004936477:22,239,093...22,254,028 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_004936477:20,810,188...20,841,537 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_004936477:21,918,091...21,950,895 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_004936477:21,103,336...21,225,497 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_004936477:22,200,471...22,215,473 JBrowse link
G Pitx1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:25741868 NCBI chrNW_004936597:2,211,087...2,217,065 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_004936477:22,209,445...22,213,592 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_004936477:22,200,471...22,215,473 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_004936477:22,209,445...22,213,592 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_004936513:62,966...88,844 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_004936594:4,174,258...4,195,165 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_004936490:17,318,873...17,323,080 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_004936545:2,974,627...3,010,586 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_004936570:257,636...297,797 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_004936513:62,966...88,844 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_004936490:17,305,033...17,312,167 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_004936594:4,195,217...4,203,802 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_004936641:913,674...916,312 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_004936641:893,976...913,138 JBrowse link
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chrNW_004936473:23,348,431...23,440,271 JBrowse link
G LOC101968920 eotaxin ISO protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chrNW_004936538:835,436...848,907 JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chrNW_004936473:23,435,933...23,440,173 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_004936641:700,218...736,875 JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:569,002...661,935 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_004936641:913,674...916,312 JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:1,386,592...1,472,750 JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:1,478,285...1,495,490 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_004936641:857,483...875,527 JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:675,317...691,386 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_004936641:916,695...925,411 JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:366,563...376,303 JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:413,331...426,514 JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:980,493...986,015 JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:379,112...384,711 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_004936641:893,976...913,138 JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:1,045,636...1,047,567 JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:1,619,640...1,668,480 JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:1,572,814...1,613,454 JBrowse link
G LOC101967032 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:1,036,967...1,044,954 JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:1,030,465...1,035,967 JBrowse link
G Pabpn1l PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:880,548...883,098 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_004936641:932,291...980,440 JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:987,476...994,535 JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:437,684...441,257 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_004936641:665,601...674,963 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_004936641:1,513,110...1,538,955 JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:1,001,788...1,007,970 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_004936641:887,034...889,435 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_004936641:1,053,650...1,104,664 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_004936641:1,130,073...1,162,022 JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chrNW_004936641:1,193,085...1,205,283 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_004936529:1,838,212...1,842,399 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_004936594:4,174,258...4,195,165 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_004936492:12,233,943...12,310,014 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_004936513:62,966...88,844 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_004936594:4,195,217...4,203,802 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_004936490:17,305,033...17,312,167 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_004936570:362,655...389,649 JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIC (Sanfilippo C) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 More... NCBI chrNW_004936570:257,636...297,797 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_004936570:335,668...354,839 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_004936545:2,638,854...2,714,494 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_004936545:2,974,627...3,010,586 JBrowse link
G Kics2 KICSTOR subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004936545:2,577,388...2,602,698 JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004936545:3,385,821...3,453,861 JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:25741868 NCBI chrNW_004936835:432,403...479,605 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_004936545:3,480,995...3,637,913 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_004936545:2,894,761...2,961,994 JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004936545:2,226,238...2,247,971 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_004936545:2,277,449...2,557,330 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_004936545:3,075,135...3,117,750 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_004936545:2,763,755...2,809,229 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_004936545:3,263,646...3,334,163 JBrowse link
G Xpot exportin for tRNA ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chrNW_004936545:2,721,437...2,762,785 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_004936473:23,348,431...23,440,271 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_004936473:23,435,933...23,440,173 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_004936640:857,565...899,355 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_004936549:5,964,240...6,205,245 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_004936549:6,654,259...6,827,647 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_004936543:7,721,273...7,732,468 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_004936549:6,398,190...6,537,832 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_004936549:6,291,063...6,389,000 JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfsf11 TNF superfamily member 11 treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chrNW_004936747:1,255,803...1,288,252 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_004936523:7,736,515...7,786,370 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_004936558:2,227,305...2,257,725 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_004936477:22,200,471...22,215,473 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_004936477:22,209,445...22,213,592 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_004936543:7,688,788...7,699,842 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_004936543:7,721,273...7,732,468 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13721
    Nutritional and Metabolic Diseases 5364
      disease of metabolism 5364
        inherited metabolic disorder 3728
          carbohydrate metabolic disorder 1884
            mucopolysaccharidosis 104
              Mucopolysaccharidoses, Unclassified Types 0
              Mucopolysaccharidosis VIII 0
              Mucopolysaccharidosis X 1
              Mucopolysaccharidosis-Plus Syndrome 1
              Sly syndrome 2
              mucopolysaccharidosis I + 38
              mucopolysaccharidosis II 1
              mucopolysaccharidosis III + 22
              mucopolysaccharidosis IV + 32
              mucopolysaccharidosis IX 1
              mucopolysaccharidosis VI 8
Path 2
Term Annotations click to browse term
  disease 13721
    Developmental Disease 11199
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10093
        genetic disease 9670
          inherited metabolic disorder 3728
            lysosomal storage disease 710
              mucopolysaccharidosis 104
                Mucopolysaccharidoses, Unclassified Types 0
                Mucopolysaccharidosis VIII 0
                Mucopolysaccharidosis X 1
                Mucopolysaccharidosis-Plus Syndrome 1
                Sly syndrome 2
                mucopolysaccharidosis I + 38
                mucopolysaccharidosis II 1
                mucopolysaccharidosis III + 22
                mucopolysaccharidosis IV + 32
                mucopolysaccharidosis IX 1
                mucopolysaccharidosis VI 8
paths to the root