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 VI
go back to main search page
Accession:DOID:12800 term browser browse the term
Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. (DO)
Synonyms:exact_synonym: ARSB deficiencies;   ARSB deficiency;   Arylsulfatase B Deficiency;   MPS VI;   MPS VI - Maroteaux-Lamy syndrome;   MPS6;   Maroteaux Lamy Syndrome;   Mucopolysaccharidosis 6;   Mucopolysaccharidosis Type 6;   N-acetylgalactosamine-4-sulfatase deficiencies;   N-acetylgalactosamine-4-sulfatase deficiency;   arylsulfatase B deficiencies;   deficiency of N-acetylgalactosamine-4-sulfatase;   mucopolysaccharidosis type VI;   polydystrophic dwarfism
 narrow_synonym: mucopolysaccharidosis type VI, intermediate;   mucopolysaccharidosis type VI, mild;   mucopolysaccharidosis type VI, severe
 primary_id: MESH:D009087
 alt_id: OMIA:000666;   OMIM:253200
 xref: GARD:7095;   NCI:C61264;   ORDO:583
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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
IAGP
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    Nutritional and Metabolic Diseases 5932
      disease of metabolism 5932
        inherited metabolic disorder 4125
          carbohydrate metabolic disorder 2100
            mucopolysaccharidosis 105
              mucopolysaccharidosis VI 8
Path 2
Term Annotations click to browse term
  disease 15285
    Developmental Disease 12383
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11117
        genetic disease 10652
          inherited metabolic disorder 4125
            lysosomal storage disease 807
              mucopolysaccharidosis 105
                mucopolysaccharidosis VI 8
paths to the root