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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:Sly syndrome
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Accession:DOID:12803 term browser browse the term
Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. (DO)
Synonyms:exact_synonym: GUSB Deficiency;   GUSB deficiencies;   MPS VII;   MPS VII - Sly syndrome;   MPS7;   Mucopolysaccharidosis 7;   Sly disease;   beta Glucuronidase Deficiency;   beta-glucuronidase deficiencies;   deficiency of beta-glucuronidase;   mucopolysaccharidosis VII;   mucopolysaccharidosis type VII
 primary_id: MESH:D016538
 alt_id: OMIA:000667;   OMIM:253220
 xref: ICD10CM:E76.29;   NCI:C84903
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Sly syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO ClinVar Annotator: match by term: Sly syndrome ClinVar PMID:19224584 PMID:28492532 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Gusb glucuronidase, beta ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:253220
ClinVar Annotator: match by term: MPS VII | ClinVar Annotator: match by term: Mucopolysaccharidosis type VII | ClinVar Annotator: match by term: Sly syndrome		 OMIM
CTD
MouseDO
ClinVar		 PMID:144057 PMID:1702266 PMID:1779626 PMID:1833732 PMID:1992472 More... NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Sly syndrome 2
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
            carbohydrate metabolic disorder 3309
              mucopolysaccharidosis 44
                Sly syndrome 2
paths to the root