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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.



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 chr17:74,620,152...74,636,895
Ensembl chr17:80,342,810...80,369,707
JBrowse link
G GUSB glucuronidase beta disease_progression ISO protein:decreases activity:spleen, kidney, lung (rat) RGD PMID:2879381 RGD:42724461 NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
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 chr 8:42,388,406...42,448,466 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 chr 3:50,228,491...50,238,798
Ensembl chr 3:51,463,239...51,467,286
JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: IDUA pseudodeficiency ClinVar PMID:8554071 PMID:28492532 NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
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 chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
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 chr17:74,636,854...74,647,958
Ensembl chr17:80,371,790...80,381,703
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 chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012
JBrowse link
G C4H4orf48 chromosome 4 C4orf48 homolog ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 4:2,184,128...2,186,148 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 chr 4:889,037...930,046
Ensembl chr 4:819,833...858,953
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 chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822
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 chr 4:1,075,133...1,090,081
Ensembl chr 4:994,985...1,007,724
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 chr 4:2,678,935...2,875,203
Ensembl chr 4:2,641,979...2,777,761
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 chr 4:1,774,306...1,821,670
Ensembl chr 4:1,647,466...1,722,938
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 chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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 chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936
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 chr 4:952,474...1,049,612
Ensembl chr 4:883,096...967,473
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 chr 4:2,370,947...2,385,108
Ensembl chr 4:2,282,482...2,292,739
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 chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
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 chr 4:1,953,033...1,994,958
Ensembl chr 4:1,862,788...1,900,901
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 chr 4:1,432,848...1,485,764
Ensembl chr 4:1,315,810...1,366,448
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 chr 4:2,390,409...2,405,141 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 chr 4:723,153...725,981
Ensembl chr 4:708,548...715,897
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 chr 4:2,201,326...2,211,302 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 chr 4:2,119,699...2,147,618
Ensembl chr 4:2,027,939...2,054,669
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 chr 4:1,547,939...1,551,457 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 chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425
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 chr 4:802,990...874,063
Ensembl chr 4:746,137...805,443
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 chr 4:499,795...540,453
Ensembl chr 4:521,807...561,790
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 chr 4:2,214,154...2,385,094
Ensembl chr 4:2,122,309...2,292,431
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 chr 4:1,167,176...1,259,080
Ensembl chr 4:1,102,342...1,146,153
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 chr 4:2,614,918...2,661,785
Ensembl chr 4:2,540,612...2,563,937
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 chr 4:2,936,051...2,982,062
Ensembl chr 4:2,857,249...2,882,263
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 chr 4:1,830,247...1,849,890
Ensembl chr 4:1,744,616...1,763,796
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 chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
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 chr 4:725,725...733,127
Ensembl chr 4:715,736...723,399
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 chr 4:1,309,473...1,351,529
Ensembl chr 4:1,195,848...1,200,400
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 chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019
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 chr 4:1,853,126...1,858,461
Ensembl chr 4:1,767,517...1,772,643
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 chr 4:1,049,647...1,074,903
Ensembl chr 4:967,494...993,030
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 chr 4:2,884,265...2,899,160 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 chr 4:1,492,716...1,532,114
Ensembl chr 4:1,373,562...1,413,982
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 chr 4:2,412,659...2,564,741
Ensembl chr 4:2,320,446...2,470,638
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 chr 4:441,041...499,744 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 chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:25741868 NCBI chr 5:130,422,920...130,429,828
Ensembl chr 5:136,565,285...136,570,350
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 chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
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 chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
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 chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
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 chr  X:138,493,117...138,520,017
Ensembl chr  X:148,912,475...148,946,441
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 chr17:74,620,152...74,636,895
Ensembl chr17:80,342,810...80,369,707
JBrowse link
G COASY Coenzyme A synthase susceptibility ISO DNA:nonsense mutation, splice-site mutation, missense mutations:multiple RGD PMID:11153910 RGD:1642057 NCBI chr17:14,750,246...14,754,417
Ensembl chr17:14,973,662...14,977,797
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 chr12:24,164,127...24,209,963
Ensembl chr12:24,667,603...24,712,939
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 chr 8:42,388,406...42,448,466 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 chr  X:138,493,117...138,520,017
Ensembl chr  X:148,912,475...148,946,441
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 chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
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 chr17:74,636,854...74,647,958
Ensembl chr17:80,371,790...80,381,703
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 chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G CCL11 C-C motif chemokine ligand 11 ISO protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345
Ensembl chr17:22,806,076...22,808,345
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 chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036
JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
JBrowse link
G TMPPE transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chr 3:33,024,623...33,031,877 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 chr16:69,842,709...69,907,075
Ensembl chr16:89,467,997...89,523,825
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311
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 chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:68,626,638...68,753,293 JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:68,564,400...68,618,614 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 chr16:69,592,293...69,662,321
Ensembl chr16:89,246,545...89,347,435
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 chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823
JBrowse link
G CHMP1A charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:70,398,021...70,411,383
Ensembl chr16:90,003,892...90,017,653
JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:70,327,952...70,349,898
Ensembl chr16:89,936,172...89,955,115
JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231
JBrowse link
G DPEP1 dipeptidase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:70,365,900...70,392,377
Ensembl chr16:89,975,105...89,997,978
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 chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036
JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:69,347,233...69,353,562
Ensembl chr16:89,011,688...89,013,678
JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:68,276,459...68,379,909
Ensembl chr16:87,596,814...87,700,235
JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:68,384,552...68,448,167
Ensembl chr16:87,702,744...87,764,605
JBrowse link
G LOC100986914 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:69,579,421...69,583,803
Ensembl chr16:89,234,156...89,237,595
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 chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:69,409,777...69,419,761 JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:70,312,241...70,314,956 JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:68,512,407...68,552,763 JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:69,390,929...69,400,971
Ensembl chr16:89,051,479...89,059,704
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 chr16:69,571,438...69,575,556
Ensembl chr16:89,226,220...89,231,854
JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:69,282,652...69,345,077
Ensembl chr16:88,944,517...89,005,199
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 chr16:69,164,299...69,246,136 JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390
JBrowse link
G ZNF778 zinc finger protein 778 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr16:69,984,952...69,985,889
Ensembl chr16:89,587,595...89,595,023
Ensembl chr16:89,587,595...89,595,023
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 chr 3:50,228,491...50,238,798
Ensembl chr 3:51,463,239...51,467,286
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 chr17:74,620,152...74,636,895
Ensembl chr17:80,342,810...80,369,707
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 chr12:99,328,026...99,418,151
Ensembl chr12:102,729,615...102,816,560
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 chr  X:138,493,117...138,520,017
Ensembl chr  X:148,912,475...148,946,441
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 chr17:74,636,854...74,647,958
Ensembl chr17:80,371,790...80,381,703
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 chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
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 chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031
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 chr 8:42,388,406...42,448,466 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 chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239
JBrowse link
mucopolysaccharidosis type IIID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12H12orf56 chromosome 12 C12orf56 homolog ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:24,529,850...24,647,923
Ensembl chr12:25,029,679...25,147,432
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 chr12:24,164,127...24,209,963
Ensembl chr12:24,667,603...24,712,939
JBrowse link
G KICS2 KICSTOR subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:24,691,658...24,721,618
Ensembl chr12:25,174,580...25,219,830
JBrowse link
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314
JBrowse link
G MOK MOK protein kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:25741868 NCBI chr14:82,842,769...82,925,263
Ensembl chr14:102,665,543...102,741,546
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:23,449,225...23,638,287
Ensembl chr12:23,953,759...24,142,578
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 chr12:24,225,855...24,312,891
Ensembl chr12:24,726,821...24,914,256
JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872
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 chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180
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 chr12:24,042,551...24,164,052
Ensembl chr12:24,551,186...24,645,916
JBrowse link
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:24,419,271...24,469,164
Ensembl chr12:24,917,246...24,968,587
JBrowse link
G WIF1 WNT inhibitory factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807
JBrowse link
G XPOT exportin for tRNA ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr12:24,469,893...24,516,694
Ensembl chr12:24,969,881...25,016,517
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 chr 3:32,892,039...33,031,959
Ensembl chr 3:33,231,209...33,336,804
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 chr 3:33,024,623...33,031,877 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 chr21:13,352,222...13,402,165
Ensembl chr21:26,744,807...26,788,736
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 chr 5:37,015,518...37,305,769
Ensembl chr 5:37,503,162...37,840,205
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 chr 5:36,325,581...36,534,371
Ensembl chr 5:36,804,874...37,023,739
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 chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
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 chr 5:36,663,171...36,825,272
Ensembl chr 5:37,289,046...37,314,043
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 chr 5:36,829,770...36,951,827
Ensembl chr 5:37,316,593...37,439,785
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFSF11 TNF superfamily member 11 treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr13:23,750,835...23,784,740 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 chr 5:19,744,154...19,794,098
Ensembl chr 5:19,890,869...19,939,068
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 chr12:119,831,693...119,868,132
Ensembl chr12:123,201,663...123,236,019
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 chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
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 chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
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 chr 7:59,971,529...59,988,722
Ensembl chr 7:73,142,842...73,157,472
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 chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14631
    Nutritional and Metabolic Diseases 5573
      disease of metabolism 5573
        inherited metabolic disorder 3859
          carbohydrate metabolic disorder 1932
            mucopolysaccharidosis 103
              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 + 31
              mucopolysaccharidosis IX 1
              mucopolysaccharidosis VI 8
Path 2
Term Annotations click to browse term
  disease 14631
    Developmental Disease 11857
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10611
        genetic disease 10156
          inherited metabolic disorder 3859
            lysosomal storage disease 732
              mucopolysaccharidosis 103
                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 + 31
                mucopolysaccharidosis IX 1
                mucopolysaccharidosis VI 8
paths to the root