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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.


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 ADAM metallopeptidase with thrombospondin type 1 motif, 5 IEP protein:increased expression:intervertebral disk RGD PMID:23192728 RGD:10043113 NCBI chr11:25,000,627...25,047,205
Ensembl chr11:25,000,637...25,047,205 		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 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935 		JBrowse link
G Arsb arylsulfatase B susceptibility
treatment		 IAGP
ISO
ISS		 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 chr 2:25,002,210...25,162,675
Ensembl chr 2:25,002,346...25,162,671 		JBrowse link
G ArsbMPR arylsulfatase B; MPR mutant IAGP RGD PMID:8575749 RGD:631738
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 chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		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 2:25,281,771...25,428,128
Ensembl chr 2:25,281,901...25,427,950 		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 2:25,433,958...25,516,734
Ensembl chr 2:25,433,959...25,516,673 		JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:21887218 RGD:39131283 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfsf11 TNF superfamily member 11 treatment IEP RGD PMID:21887218 RGD:39131283 NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          carbohydrate metabolic disorder 3309
            mucopolysaccharidosis 44
              mucopolysaccharidosis VI 10
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            lysosomal storage disease 995
              mucopolysaccharidosis 44
                mucopolysaccharidosis VI 10
paths to the root