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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:Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
Synonyms:exact_synonym: GUSB Deficiencies;   GUSB Deficiency;   MPS VII;   MPS VII - Sly syndrome;   MPS7;   Mucopolysaccharidosis 7;   Mucopolysaccharidosis Type VII;   Sly disease;   beta Glucuronidase Deficiency;   beta-glucuronidase deficiencies;   deficiency of beta-glucuronidase;   mucopolysaccharidosis 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.



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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 ClinVar Annotator: match by term: Sly syndrome
ClinVar Annotator: match by OMIM:253220
ClinVar Annotator: match by term: Mucopolysaccharidosis type VII
OMIM
ClinVar
PMID:144057 PMID:1702266 PMID:1779626 PMID:1833732 PMID:1992472 More... NCBI chr12:26,701,191...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 17289
    syndrome 8166
      Sly syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            carbohydrate metabolic disorder 530
              mucopolysaccharidosis 36
                Sly syndrome 2
paths to the root