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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 chrNW_004955407:26,597,165...26,643,972
Ensembl chrNW_004955407:26,603,479...26,643,103
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 chrNW_004955425:22,792,616...23,051,509
Ensembl chrNW_004955425:22,792,616...23,051,737
JBrowse link
G Arsb arylsulfatase B susceptibility
treatment
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
RGD
ClinVar
PMID:1301949 PMID:1550123 PMID:1718978 PMID:4974081 PMID:7733883 More... RGD:1599228 RGD:39131283 RGD:631738 NCBI chrNW_004955425:22,120,507...22,281,221
Ensembl chrNW_004955425:22,119,930...22,279,006
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 chrNW_004955456:8,377,161...8,392,298
Ensembl chrNW_004955456:8,378,654...8,392,252
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 chrNW_004955425:22,398,503...22,556,667
Ensembl chrNW_004955425:22,504,107...22,557,970
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 chrNW_004955425:22,562,336...22,686,661
Ensembl chrNW_004955425:22,564,978...22,686,564
JBrowse link
G Tnf tumor necrosis factor treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Tnfsf11 TNF superfamily member 11 treatment ISO RGD PMID:21887218 RGD:39131283 NCBI chrNW_004955518:431,401...462,063
Ensembl chrNW_004955518:430,642...462,705
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13486
    Nutritional and Metabolic Diseases 5353
      disease of metabolism 5353
        inherited metabolic disorder 3723
          carbohydrate metabolic disorder 1893
            mucopolysaccharidosis 105
              mucopolysaccharidosis VI 8
Path 2
Term Annotations click to browse term
  disease 13486
    Developmental Disease 11083
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10029
        genetic disease 9615
          inherited metabolic disorder 3723
            lysosomal storage disease 715
              mucopolysaccharidosis 105
                mucopolysaccharidosis VI 8
paths to the root