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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:Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
Synonyms:exact_synonym: mucopolysaccharidoses
 related_synonym: IDUA pseudodeficiency
 primary_id: MESH:D009083
 alt_id: RDO:0006012
 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 ISS OMIM:252700 MouseDO NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941 		JBrowse link
G Arsk arylsulfatase family, member K ISS OMIM:252700 MouseDO NCBI chr 2:5,575,727...5,631,370
Ensembl chr 2:5,574,322...5,631,467 		JBrowse link
G Card14 caspase recruitment domain family, member 14 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		JBrowse link
G Gusb glucuronidase, beta disease_progression IEP protein:decreases activity:spleen, kidney, lung (rat) RGD PMID:2879381 RGD:42724461 NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905 		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 chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G Hyal1 hyaluronidase 1 ISO mucopolysaccharidosis IX, OMIM:601492 RGD PMID:10339581 RGD:1599811 NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: IDUA pseudodeficiency ClinVar PMID:8554071 PMID:28492532 NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		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 chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		JBrowse link
mucopolysaccharidosis I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase treatment ISO DNA:nonsense mutation:CDS:p.W402X (human)
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency
ClinVar Annotator: match by term: Mucopolysaccharidosis type I
ClinVar Annotator: match by term: Hurler syndrome
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 Annotator: match by OMIM:607014		 ClinVar
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 chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Mucopolysaccharidosis type 1
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency
ClinVar Annotator: match by term: Mucopolysaccharidosis type I		 ClinVar PMID:1301941 PMID:1505961 PMID:7550232 PMID:7550242 PMID:7951228 More... NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		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: Hurler syndrome
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH
ClinVar Annotator: match by term: Dysostosis multiplex		 OMIM
ClinVar		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Pitx1 paired-like homeodomain 1 ISO ClinVar Annotator: match by term: Dysostosis multiplex ClinVar PMID:25741868 NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Dysostosis multiplex
ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome		 ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7951228 More... NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		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 chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S		 ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8213840 PMID:8401515 More... NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		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
ClinVar Annotator: match by term: SULFOIDURONATE SULFATASE DEFICIENCY
ClinVar Annotator: match by term: SIDS deficiency
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by OMIM:309900
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE II, SEVERE FORM		 ClinVar
OMIM
RGD		 PMID:1284597 PMID:1303211 PMID:1355630 PMID:1550586 PMID:1639384 More... RGD:1599819, RGD:12910721 NCBI chr  X:149,025,977...149,046,639
Ensembl chr  X:149,025,976...149,046,663 		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 chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		JBrowse link
G Coasy Coenzyme A synthase susceptibility ISO DNA:nonsense mutation, splice-site mutation, missense mutations:multiple RGD PMID:11153910 RGD:1642057 NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841 		JBrowse link
G Gns glucosamine (N-acetyl)-6-sulfatase ISO mucopolysaccharidosis type IIID (OMIM:252940)
ClinVar Annotator: match by term: Sanfilippo syndrome
ClinVar Annotator: match by term: Sanfilippo disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3391615 PMID:16199547 PMID:20232353 PMID:25741868 PMID:28492532 More... RGD:1599248 NCBI chr 7:56,889,139...56,923,170
Ensembl chr 7:56,889,232...56,923,151 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Sanfilippo syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 PMID:18024218 More... NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Sanfilippo syndrome
ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:252920
human protein in mouse model
protein:decreased activity:skin fibroblast, liver (human)		 ClinVar
CTD
RGD		 PMID:9950362 PMID:10094189 PMID:14984474 PMID:15300983 PMID:15933803 More... RGD:7241018, RGD:7241016, RGD:7241013, RGD:7241012 NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sanfilippo syndrome
ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency		 CTD
ClinVar		 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		JBrowse link
G Slc26a11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Sanfilippo syndrome ClinVar PMID:25741868 NCBI chr10:104,613,498...104,635,873
Ensembl chr10:104,613,564...104,635,970 		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: Mucopolysaccharidosis, Type IV ClinVar PMID:25741868 PMID:28492532 NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:decreased expression:plasma RGD PMID:22176730 RGD:7247741 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by OMIM:253000
ClinVar Annotator: match by term: Morquio syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucopolysaccharidosis Type IVA
ClinVar Annotator: match by term: Mucopolysaccharidosis, Type IV		 ClinVar
CTD		 PMID:7633425 PMID:7668283 PMID:7795586 PMID:8829629 PMID:9298823 More... NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		JBrowse link
G Glb1 galactosidase, beta 1 ISO Morquio disease type B
ClinVar Annotator: match by term: Mucopolysaccharidosis type IV B
CTD Direct Evidence: marker/mechanism
DNA:mutation:998 A > G (p.Y333C)(human)		 ClinVar
CTD
RGD		 PMID:1928092 PMID:7586649 PMID:11511921 PMID:19091613 RGD:1598984, RGD:12910454 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IV B ClinVar NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		JBrowse link
mucopolysaccharidosis IVA 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: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:34387910 NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431 		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:34387910 NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659 		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 chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		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:34387910 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		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 chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192 		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
ClinVar Annotator: match by term: HYALURONIDASE DEFICIENCY
ClinVar Annotator: match by OMIM:601492		 OMIM
ClinVar		 PMID:8793927 PMID:10339581 PMID:21559944 PMID:25741868 PMID:27424109 More... NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210 		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, MPS-III-A ClinVar PMID:9158154 PMID:9285796 PMID:9401012 PMID:9700599 PMID:10601282 More... NCBI chr10:104,572,059...104,601,606
Ensembl chr10:104,566,424...104,601,905 		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:16465621 PMID:19617216 PMID:19938078 PMID:23192343 PMID:24045841 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar
OMIM		 PMID:7493035 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		JBrowse link
G Slc26a11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A ClinVar PMID:9285796 PMID:9401012 PMID:11343308 PMID:21204211 PMID:21910976 More... NCBI chr10:104,613,498...104,635,873
Ensembl chr10:104,613,564...104,635,970 		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, MPS-III-B
ClinVar Annotator: match by term: Sanfilippo syndrome B		 ClinVar
OMIM		 PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		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 chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-C
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17397050 More... NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIC ClinVar PMID:28492532 NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
mucopolysaccharidosis type IIID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gns glucosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIID
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D		 ClinVar
OMIM		 PMID:3100754 PMID:6450420 PMID:9536098 PMID:12573255 PMID:12624138 More... NCBI chr 7:56,889,139...56,923,170
Ensembl chr 7:56,889,232...56,923,151 		JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIID ClinVar PMID:25741868 NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700 		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:1487238 PMID:1907800 PMID:1909089 PMID:1928092 PMID:2149194 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		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:16941474 PMID:17576681 More... NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		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 IEP protein:increased expression:intervertebral disk RGD PMID:23192728 RGD:10043113 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205 		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 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Arsb arylsulfatase B susceptibility
treatment		 IAGP
ISO		 ClinVar Annotator: match by term: Mucopolysaccharidosis type 6
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild
ClinVar Annotator: match by term: Mucopolysaccharidosis type VI
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate
DNA:mutation:cds:507InsC(rat)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:253200		 ClinVar
CTD
OMIM
RGD		 PMID:1301949 PMID:1550123 PMID:1718978 PMID:7733883 PMID:8116615 More... RGD:631738, RGD:39131283, RGD:1599228, RGD:631738 NCBI chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671 		JBrowse link
G ArsbMPR arylsulfatase B; MPR mutant IAGP RGD PMID:8575749 RGD:631738
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 chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905 		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 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950 		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 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673 		JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:21887218 RGD:39131283 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfsf11 TNF superfamily member 11 treatment IEP RGD PMID:21887218 RGD:39131283 NCBI chr15:53,674,990...53,705,171
Ensembl chr15:53,673,877...53,705,445 		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 OMIM NCBI chr 2:5,575,727...5,631,370
Ensembl chr 2:5,574,322...5,631,467 		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 chr12:33,024,596...33,051,399
Ensembl chr12:33,024,650...33,051,393 		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: Scheie Syndrome
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V		 ClinVar
OMIM		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Scheie Syndrome
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V		 ClinVar PMID:1301941 PMID:1505961 PMID:7951228 PMID:8401515 PMID:9427149 More... NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		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 chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Gusb glucuronidase, beta ISO ClinVar Annotator: match by term: Sly syndrome
ClinVar Annotator: match by term: Mucopolysaccharidosis type VII
ClinVar Annotator: match by OMIM:253220		 OMIM
ClinVar		 PMID:144057 PMID:1702266 PMID:1779626 PMID:1833732 PMID:1992472 More... NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        inherited metabolic disorder 2663
          carbohydrate metabolic disorder 531
            mucopolysaccharidosis 38
              Mucopolysaccharidoses, Unclassified Types 0
              Mucopolysaccharidosis VIII 0
              Mucopolysaccharidosis X 1
              Mucopolysaccharidosis-Plus Syndrome 1
              Sly syndrome 2
              mucopolysaccharidosis I + 3
              mucopolysaccharidosis II 1
              mucopolysaccharidosis III + 11
              mucopolysaccharidosis IV + 8
              mucopolysaccharidosis IX 1
              mucopolysaccharidosis VI 10
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          inherited metabolic disorder 2663
            lysosomal storage disease 639
              mucopolysaccharidosis 38
                Mucopolysaccharidoses, Unclassified Types 0
                Mucopolysaccharidosis VIII 0
                Mucopolysaccharidosis X 1
                Mucopolysaccharidosis-Plus Syndrome 1
                Sly syndrome 2
                mucopolysaccharidosis I + 3
                mucopolysaccharidosis II 1
                mucopolysaccharidosis III + 11
                mucopolysaccharidosis IV + 8
                mucopolysaccharidosis IX 1
                mucopolysaccharidosis VI 10
paths to the root