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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 chr13:190,353,019...190,413,110
Ensembl chr13:190,361,744...190,413,110
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 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768
JBrowse link
G ARSB arylsulfatase B treatment
susceptibility
ISO 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
ClinVar
RGD
PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 More... RGD:1599228 RGD:39131283 RGD:631738 NCBI chr 2:87,614,938...87,779,553
Ensembl chr 2:87,614,963...87,778,447
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 3:16,672,071...16,686,520
Ensembl chr 3:16,671,389...16,689,203
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 2:87,321,119...87,498,686
Ensembl chr 2:87,322,934...87,349,878
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 2:87,210,839...87,313,520
Ensembl chr 2:87,210,846...87,316,112
JBrowse link
G TNF tumor necrosis factor treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TNFSF11 TNF superfamily member 11 treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,468,110...24,505,477
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14500
    Nutritional and Metabolic Diseases 5656
      disease of metabolism 5656
        inherited metabolic disorder 3938
          carbohydrate metabolic disorder 2008
            mucopolysaccharidosis 105
              mucopolysaccharidosis VI 8
Path 2
Term Annotations click to browse term
  disease 14500
    Developmental Disease 11816
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10610
        genetic disease 10159
          inherited metabolic disorder 3938
            lysosomal storage disease 768
              mucopolysaccharidosis 105
                mucopolysaccharidosis VI 8
paths to the root