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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 VI
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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.



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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 chr21:26,917,922...26,967,088
Ensembl chr21:26,917,922...26,967,088
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
JBrowse link
G ARSB arylsulfatase B susceptibility
treatment
IAGP
ISO
EXP
DNA:mutation:cds:507InsC(rat)
ClinVar Annotator: match by term: Mucopolysaccharidosis type VI
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate
ClinVar Annotator: match by term: Mucopolysaccharidosis type 6
ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild
ClinVar
OMIM
CTD
RGD
PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 More... RGD:1599228, RGD:631738, RGD:39131283 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G GUSB glucuronidase beta IAGP ClinVar Annotator: match by term: Maroteaux Lamy syndrome ClinVar PMID:7573038 PMID:8089138 PMID:8644704 PMID:9490302 PMID:9921904 More... NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G LHFPL2 LHFPL tetraspan subfamily member 2 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 5:78,485,230...78,648,772
Ensembl chr 5:78,485,215...78,770,021
JBrowse link
G LOC123497917 Sharpr-MPRA regulatory region 14877 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:8144552 PMID:17458871 PMID:17643332 PMID:18406185 PMID:25654180 More... NCBI chr 5:78,841,826...78,842,120 JBrowse link
G SCAMP1 secretory carrier membrane protein 1 IAGP ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 ClinVar PMID:10036316 PMID:17458871 PMID:18486607 PMID:28492532 NCBI chr 5:78,360,617...78,480,739
Ensembl chr 5:78,360,611...78,480,739
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFSF11 TNF superfamily member 11 treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22115
    Nutritional and Metabolic Diseases 7407
      disease of metabolism 7407
        inherited metabolic disorder 4956
          carbohydrate metabolic disorder 2524
            mucopolysaccharidosis 114
              mucopolysaccharidosis VI 9
Path 2
Term Annotations click to browse term
  disease 22115
    Developmental Disease 16587
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14321
        genetic disease 13670
          inherited metabolic disorder 4956
            lysosomal storage disease 845
              mucopolysaccharidosis 114
                mucopolysaccharidosis VI 9
paths to the root