Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 III
go back to main search page
Accession:DOID:12801 term browser browse the term
Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. (DO)
Synonyms:exact_synonym: Heparan Sulfate Sulfatase Deficiency;   Mucopolysaccharidosis 3;   N Acetyl alpha D Glucosaminidase Deficiency;   N-acetyl-alpha-D-glucosaminidase deficiencies;   N-sulphoglucosamine sulphohydrolase deficiency;   NAGLU Deficiency;   NAGLU deficiencies;   Polydystrophic Oligophrenia;   Polydystrophic Oligophrenias;   SANFILIPPO DISEASE;   San Filippo Syndrome;   San Filippo's Syndrome;   San Filippos Syndrome;   Sanfilippo syndrome;   Sanfilippo syndromes;   Sanfilippo's Syndrome;   Sanfilippos Syndrome;   acetyl CoA:alpha glucosaminide N-acetyltransferase deficiency;   acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiencies;   mucopolysaccharidosis, MPS-III;   sulfamidase deficiencies;   sulfamidase deficiency
 primary_id: MESH:D009084
 alt_id: OMIA:001309;   OMIA:001342
 xref: NCI:C61262;   NCI:C84897;   NCI:C84898;   ORDO:581
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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
ISS
DNA:nonsense mutation, splice-site mutation, missense mutations:multiple
OMIM:252940
MouseDO
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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sanfilippo syndrome
CTD
ClinVar
RGD
PMID:3391615 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20232353 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sanfilippo syndrome
CTD
ClinVar
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 Ids iduronate 2-sulfatase ISO ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency ClinVar PMID:21291454 PMID:25741868 PMID:28492532 NCBI chr  X:149,025,977...149,046,639
Ensembl chr  X:149,025,976...149,046,663
JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO DNA:mutations:multiple (human)
protein:decreased activity:skin fibroblast, liver (human)
human protein in mouse model
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome
CTD
ClinVar
RGD
PMID:8650226 PMID:9443875 PMID:9950362 PMID:10094189 PMID:14984474 More... RGD:7241018, RGD:7241012, RGD:7241013, RGD:7241016 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: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome
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
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 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:9536098 PMID:16465621 PMID:17576681 PMID:19617216 PMID:19938078 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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:149,025,977...149,046,639
Ensembl chr  X:149,025,976...149,046,663
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 chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486
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 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 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 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, MPS-III-C ClinVar PMID:17033958 PMID:19479962 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 C7h12orf56 similar to human chromosome 12 open reading frame 56 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,170,406...57,220,930
Ensembl chr 7:57,170,992...57,220,925
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 chr 7:56,889,139...56,923,170
Ensembl chr 7:56,889,232...56,923,151
JBrowse link
G Kics2 KICSTOR subunit 2 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,284,213...57,299,070
Ensembl chr 7:57,284,192...57,297,486
JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
JBrowse link
G Mok MOK protein kinase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:25741868 NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496
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 chr 7:56,935,894...57,000,591
Ensembl chr 7:56,935,973...57,000,553
JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
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 chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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 chr 7:56,779,570...56,869,092
Ensembl chr 7:56,782,165...56,870,515
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:56,548,058...56,618,364
Ensembl chr 7:56,548,053...56,618,360
JBrowse link
G Xpot exportin for tRNA ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D ClinVar PMID:20232353 PMID:28492532 NCBI chr 7:57,111,536...57,151,847
Ensembl chr 7:57,111,536...57,152,099
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        inherited metabolic disorder 4671
          carbohydrate metabolic disorder 2562
            mucopolysaccharidosis 107
              mucopolysaccharidosis III 22
                mucopolysaccharidosis type IIIA 4
                mucopolysaccharidosis type IIIB 1
                mucopolysaccharidosis type IIIC 3
                mucopolysaccharidosis type IIID 13
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        genetic disease 11118
          inherited metabolic disorder 4671
            lysosomal storage disease 816
              mucopolysaccharidosis 107
                mucopolysaccharidosis III 22
                  mucopolysaccharidosis type IIIA 4
                  mucopolysaccharidosis type IIIB 1
                  mucopolysaccharidosis type IIIC 3
                  mucopolysaccharidosis type IIID 13
paths to the root