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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 Arsg arylsulfatase G IEA OMIM:252700 MouseDO NCBI chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156
JBrowse link
G Arsk arylsulfatase K IEA
ISS
OMIM:252700 MouseDO NCBI chr13:76,208,541...76,246,794
Ensembl chr13:76,208,541...76,246,779
JBrowse link
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 chr11:119,197,923...119,236,205
Ensembl chr11:119,198,594...119,236,201
JBrowse link
G Gusb glucuronidase, beta disease_progression ISO protein:decreases activity:spleen, kidney, lung (rat) RGD PMID:2879381 RGD:42724461 NCBI chr 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890
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 8:26,434,487...26,466,772
Ensembl chr 8:26,434,481...26,466,781
JBrowse link
G Hyal1 hyaluronoglucosaminidase 1 ISO
ISS
mucopolysaccharidosis IX, OMIM:601492
OMIM:252700
MouseDO
RGD
PMID:10339581 RGD:1599811 NCBI chr 9:107,454,149...107,458,898
Ensembl chr 9:107,454,126...107,458,909
JBrowse link
G Idua iduronidase, alpha-L ISO ClinVar Annotator: match by term: IDUA pseudodeficiency ClinVar PMID:8554071 PMID:28492532 NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423
JBrowse link
G Naglu alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:8650226 PMID:9443875 PMID:9832037 PMID:9950362 PMID:10094189 More... NCBI chr11:100,960,859...100,968,498
Ensembl chr11:100,960,838...100,968,498
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase (sulfamidase) 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 chr11:119,234,315...119,246,336
Ensembl chr11:119,234,251...119,246,362
JBrowse link
mucopolysaccharidosis I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 (alpha) ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:34,731,008...34,789,652
Ensembl chr 5:34,731,008...34,789,652
JBrowse link
G Atp5k ATP synthase, H+ transporting, mitochondrial F1F0 complex, subunit E ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:108,581,112...108,582,265
Ensembl chr 5:108,581,110...108,582,314
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 5:108,666,420...108,697,893
Ensembl chr 5:108,666,420...108,697,890
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 5:33,405,067...33,432,467
Ensembl chr 5:33,405,067...33,432,338
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 5:108,794,910...108,808,696
Ensembl chr 5:108,794,559...108,817,538
JBrowse link
G Fam193a family with sequence homology 193, member A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:34,527,277...34,643,802
Ensembl chr 5:34,527,277...34,643,800
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 5:33,757,695...33,787,007
Ensembl chr 5:33,757,691...33,786,979
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 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
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 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790
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 5:108,716,973...108,777,643
Ensembl chr 5:108,717,277...108,777,621
JBrowse link
G Gm1673 predicted gene 1673 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:34,140,777...34,142,353
Ensembl chr 5:34,140,777...34,142,357
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 5:34,311,240...34,326,768
Ensembl chr 5:34,311,224...34,326,871
JBrowse link
G Idua iduronidase, alpha-L treatment ISO
IEA
IMP
DNA:nonsense mutation:CDS:p.W402X (human)
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
OMIM:607014 | OMIM:607015 | OMIM:607016
DNA:missense mutations, nonsense mutation: :multiple
DNA:missense mutation, nonsense mutation: :p.P533R, p.Q10X (human)
DNA:mutations:exon, intron:multiple
DNA:insertion/deletion, missense mutations, nonsense mutation: :multiple
DNA:splice-site mutations:intron:c.792+1G>T, c.1190-1G>A (human)
DNA:insertion, missense mutation: :704_705CTGCT, p.R89Q (human)
DNA:nonsense mutation: :p.W392X (mouse)
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar
MouseDO
CTD
RGD
PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:1627351 More... RGD:1599894, RGD:11069860, RGD:11068482, RGD:12910721, RGD:12910720, RGD:12910719, RGD:12910718, RGD:12910716, RGD:12910516, RGD:12910513, RGD:12910510, RGD:12910509, RGD:12910508, RGD:12910504, RGD:12910503, RGD:12910502, RGD:12910501, RGD:12910499, RGD:12910497 NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423
JBrowse link
G Letm1 leucine zipper-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 5:33,897,017...33,940,061
Ensembl chr 5:33,897,017...33,940,161
JBrowse link
G Maea macrophage erythroblast attacher ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:33,492,916...33,530,638
Ensembl chr 5:33,492,853...33,530,640
JBrowse link
G Mfsd7a major facilitator superfamily domain containing 7A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:108,588,920...108,598,631
Ensembl chr 5:108,588,920...108,596,966
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 5:34,333,924...34,345,054
Ensembl chr 5:34,331,227...34,345,064
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 5:34,153,328...34,163,260
Ensembl chr 5:34,153,328...34,163,260
JBrowse link
G Nelfa negative elongation factor complex member A, Whsc2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:34,055,260...34,093,670
Ensembl chr 5:34,055,260...34,093,757
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 5:33,588,078...33,591,434
Ensembl chr 5:33,588,078...33,591,320
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 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319
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 5:108,609,082...108,654,842
Ensembl chr 5:108,609,098...108,654,842
JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263
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 5:108,460,679...108,497,225
Ensembl chr 5:108,460,475...108,497,221
JBrowse link
G Poln DNA polymerase N ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:34,164,523...34,326,870
Ensembl chr 5:34,164,523...34,326,792
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 5:108,875,971...108,922,933
Ensembl chr 5:108,877,156...108,922,848
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 5:34,493,594...34,510,789
Ensembl chr 5:34,493,633...34,512,973
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 5:34,683,128...34,720,983
Ensembl chr 5:34,683,182...34,720,985
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 5:33,797,399...33,809,918
Ensembl chr 5:33,792,296...33,809,918
JBrowse link
G Slc26a1 solute carrier family 26 (sulfate transporter), 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 5:108,817,744...108,826,246
Ensembl chr 5:108,817,744...108,823,435
JBrowse link
G Spon2 spondin 2, extracellular matrix protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:33,370,862...33,375,596
Ensembl chr 5:33,355,528...33,375,799
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 5:33,814,808...33,829,547
Ensembl chr 5:33,815,472...33,836,339
JBrowse link
G Tmem129 transmembrane protein 129 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:33,810,560...33,815,321
Ensembl chr 5:33,810,560...33,815,760
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 5:108,777,649...108,795,636
Ensembl chr 5:108,777,636...108,796,648
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 5:34,653,440...34,671,323
Ensembl chr 5:34,653,431...34,671,335
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 5:33,535,868...33,578,243
Ensembl chr 5:33,535,893...33,577,098
JBrowse link
G Zfyve28 zinc finger, FYVE domain containing 28 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:11735025 PMID:21480867 PMID:27766162 PMID:28492532 NCBI chr 5:34,352,237...34,445,796
Ensembl chr 5:34,352,237...34,445,793
JBrowse link
mucopolysaccharidosis Ih term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua iduronidase, alpha-L 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 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423
JBrowse link
G Pitx1 paired-like homeodomain transcription factor 1 ISO ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:25741868 NCBI chr13:55,972,857...55,984,002
Ensembl chr13:55,972,864...55,984,005
JBrowse link
G Slc26a1 solute carrier family 26 (sulfate transporter), 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 5:108,817,744...108,826,246
Ensembl chr 5:108,817,744...108,823,435
JBrowse link
mucopolysaccharidosis Ih/s term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua iduronidase, alpha-L 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 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423
JBrowse link
G Slc26a1 solute carrier family 26 (sulfate transporter), 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 5:108,817,744...108,826,246
Ensembl chr 5:108,817,744...108,823,435
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
IEA
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:309900
DNA:mutations:exon, intron:multiple
ClinVar
MouseDO
OMIM
RGD
PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 More... RGD:1599819, RGD:12910721 NCBI chr  X:69,386,675...69,429,440
Ensembl chr  X:69,386,675...69,408,690
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 chr11:119,197,923...119,236,205
Ensembl chr11:119,198,594...119,236,201
JBrowse link
G Coasy Coenzyme A synthase susceptibility ISO
ISS
DNA:nonsense mutation, splice-site mutation, missense mutations:multiple
OMIM:252940
MouseDO
RGD
PMID:11153910 RGD:1642057 NCBI chr11:100,973,391...100,977,445
Ensembl chr11:100,973,391...100,977,445
JBrowse link
G Gns glucosamine (N-acetyl)-6-sulfatase ISO
IEA
mucopolysaccharidosis type IIID (OMIM:252940)
ClinVar Annotator: match by term: Sanfilippo syndrome
OMIM:252900 | OMIM:252920 | OMIM:252930 | OMIM:252940
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:3391615 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20232353 More... RGD:1599248 NCBI chr10:121,200,995...121,233,159
Ensembl chr10:121,200,995...121,233,154
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase IEA
ISO
OMIM:252900 | OMIM:252920 | OMIM:252930 | OMIM:252940
ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 More... NCBI chr 8:26,434,487...26,466,772
Ensembl chr 8:26,434,481...26,466,781
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:69,386,675...69,429,440
Ensembl chr  X:69,386,675...69,408,690
JBrowse link
G Naglu alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) ISO
IEA
IMP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism
OMIM:252900 | OMIM:252920 | OMIM:252930 | OMIM:252940
human protein in mouse model
protein:decreased activity:skin fibroblast, liver (human)
ClinVar
CTD
MouseDO
RGD
PMID:8650226 PMID:9443875 PMID:9950362 PMID:10094189 PMID:14984474 More... RGD:7241018, RGD:7241016, RGD:7241013, RGD:7241012 NCBI chr11:100,960,859...100,968,498
Ensembl chr11:100,960,838...100,968,498
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase (sulfamidase) IEA
ISO
OMIM:252900 | OMIM:252920 | OMIM:252930 | OMIM:252940
ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chr11:119,234,315...119,246,336
Ensembl chr11:119,234,251...119,246,362
JBrowse link
mucopolysaccharidosis IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648
JBrowse link
G Ccl11 chemokine (C-C motif) ligand 11 ISO protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfate sulfatase IEA
ISO
OMIM:253000 | OMIM:253010
ClinVar Annotator: match by term: Galactosamine-6-sulfatase deficiency | ClinVar Annotator: match by term: Morquio syndrome
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:7633425 PMID:7668283 PMID:7795586 PMID:8829629 PMID:9298823 More... NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202
JBrowse link
G Glb1 galactosidase, beta 1 ISO Morquio disease type B
DNA:mutation:998 A > G (p.Y333C)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Morquio syndrome
CTD
ClinVar
RGD
PMID:1928092 PMID:7586649 PMID:11511921 PMID:19091613 RGD:1598984, RGD:12910454 NCBI chr 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Morquio syndrome ClinVar NCBI chr 9:114,230,163...114,240,269
Ensembl chr 9:114,230,173...114,236,344
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 chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648
JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997
JBrowse link
G Car5a carbonic anhydrase 5a, mitochondrial ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 translocation partner 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136
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 chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293
JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502
JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921
JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,912,974...123,928,551
Ensembl chr 8:123,912,981...123,928,551
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfate 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 chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202
JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015
JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161
JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478
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 chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983
JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
JBrowse link
G Snai3 snail family zinc finger 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472
JBrowse link
G Trappc2l trafficking protein particle complex 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399
JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099
JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 9:20,339,614...20,371,465
Ensembl chr 9:20,339,745...20,371,458
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389
JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:28492532 NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990
JBrowse link
mucopolysaccharidosis IX term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal1 hyaluronoglucosaminidase 1 ISO
IEA
ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase
OMIM:601492
OMIM
ClinVar
MouseDO
PMID:8793927 PMID:10339581 PMID:21559944 PMID:25741868 PMID:27424109 More... NCBI chr 9:107,454,149...107,458,898
Ensembl chr 9:107,454,126...107,458,909
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 chr11:119,197,923...119,236,205
Ensembl chr11:119,198,594...119,236,201
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9536098 PMID:16465621 PMID:17576681 PMID:19617216 PMID:19938078 More... NCBI chr10:88,214,996...88,283,186
Ensembl chr10:88,214,994...88,283,191
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:69,386,675...69,429,440
Ensembl chr  X:69,386,675...69,408,690
JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase (sulfamidase) 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 chr11:119,234,315...119,246,336
Ensembl chr11:119,234,251...119,246,362
JBrowse link
mucopolysaccharidosis type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naglu alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) 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 chr11:100,960,859...100,968,498
Ensembl chr11:100,960,838...100,968,498
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 8:26,488,716...26,505,638
Ensembl chr 8:26,488,750...26,505,678
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 8:26,434,487...26,466,772
Ensembl chr 8:26,434,481...26,466,781
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 8:26,470,632...26,484,149
Ensembl chr 8:26,470,632...26,484,161
JBrowse link
mucopolysaccharidosis type IIID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D930020B18Rik RIKEN cDNA D930020B18 gene ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr10:121,477,006...121,530,239
Ensembl chr10:121,477,493...121,529,820
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 chr10:121,200,995...121,233,159
Ensembl chr10:121,200,995...121,233,154
JBrowse link
G Kics2 KICSTOR subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr10:121,575,835...121,588,770
Ensembl chr10:121,575,842...121,588,783
JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr10:120,759,316...120,815,491
Ensembl chr10:120,759,318...120,815,237
JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:25741868 NCBI chr12:110,774,232...110,807,391
Ensembl chr12:110,774,232...110,807,373
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr10:120,617,005...120,735,132
Ensembl chr10:120,617,001...120,735,006
JBrowse link
G Rassf3 Ras association (RalGDS/AF-6) domain family member 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr10:121,246,255...121,312,155
Ensembl chr10:121,246,255...121,312,252
JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr10:121,916,844...121,933,271
Ensembl chr10:121,914,019...121,933,276
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 chr10:121,616,896...121,883,740
Ensembl chr10:121,616,896...121,883,220
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 chr10:121,099,724...121,187,549
Ensembl chr10:121,099,725...121,187,183
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr10:121,382,360...121,422,699
Ensembl chr10:121,382,360...121,422,692
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr10:120,869,909...120,936,547
Ensembl chr10:120,869,865...120,936,555
JBrowse link
G Xpot exportin, tRNA (nuclear export receptor for tRNAs) ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr10:121,423,285...121,462,413
Ensembl chr10:121,423,285...121,462,237
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 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
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 9:114,230,163...114,240,269
Ensembl chr 9:114,230,173...114,236,344
JBrowse link
mucopolysaccharidosis VI term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts5 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2) ISO protein:increased expression:intervertebral disk RGD PMID:23192728 RGD:10043113 NCBI chr16:85,655,045...85,698,013
Ensembl chr16:85,653,061...85,698,716
JBrowse link
G Ap3b1 adaptor-related protein complex 3, beta 1 subunit ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr13:94,492,332...94,702,838
Ensembl chr13:94,495,468...94,702,825
JBrowse link
G Arsb arylsulfatase B susceptibility
treatment
ISO
IEA
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:253200
DNA:mutation:cds:507InsC(rat)
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 More... RGD:631738, RGD:39131283, RGD:1599228, RGD:631738 NCBI chr13:93,908,187...94,079,524
Ensembl chr13:93,908,138...94,079,524
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 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890
JBrowse link
G Lhfpl2 lipoma HMGIC fusion partner-like 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr13:94,193,659...94,331,918
Ensembl chr13:94,194,304...94,331,917
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 chr13:94,337,818...94,422,339
Ensembl chr13:94,337,818...94,422,365
JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Tnfsf11 tumor necrosis factor (ligand) superfamily, member 11 treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr14:78,514,886...78,545,483
Ensembl chr14:78,514,885...78,545,483
JBrowse link
Mucopolysaccharidosis X term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsk arylsulfatase K ISO ClinVar Annotator: match by term: ARSK DEFICIENCY OMIM
ClinVar
PMID:34916232 NCBI chr13:76,208,541...76,246,794
Ensembl chr13:76,208,541...76,246,779
JBrowse link
Mucopolysaccharidosis-Plus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps33a VPS33A CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Mucopolysaccharidosis-plus syndrome OMIM
ClinVar
PMID:25741868 PMID:27547915 PMID:28013294 PMID:31070736 NCBI chr 5:123,666,820...123,711,104
Ensembl chr 5:123,666,722...123,711,101
JBrowse link
Scheie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua iduronidase, alpha-L 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 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423
JBrowse link
G Slc26a1 solute carrier family 26 (sulfate transporter), 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 5:108,817,744...108,826,246
Ensembl chr 5:108,817,744...108,823,435
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 5:130,040,099...130,053,222
Ensembl chr 5:130,040,099...130,058,088
JBrowse link
G Gusb glucuronidase, beta ISO
IEA
ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Sly syndrome
OMIM:253220
OMIM
ClinVar
MouseDO
PMID:144057 PMID:1702266 PMID:1833732 PMID:1992472 PMID:6811712 More... NCBI chr 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    Nutritional and Metabolic Diseases 5926
      disease of metabolism 5926
        inherited metabolic disorder 4125
          carbohydrate metabolic disorder 2098
            mucopolysaccharidosis 105
              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 15283
    Developmental Disease 12305
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11014
        genetic disease 10547
          inherited metabolic disorder 4125
            lysosomal storage disease 806
              mucopolysaccharidosis 105
                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