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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.


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 Gusb glucuronidase, beta ISO ClinVar Annotator: match by OMIM:253220
ClinVar Annotator: match by term: Mucopolysaccharidosis type VII
ClinVar Annotator: match by term: Sly syndrome
OMIM
ClinVar
PMID:144057, PMID:1702266, PMID:1833732, PMID:1992472, PMID:6811712, PMID:7573038, PMID:7633414, PMID:7633417, PMID:7680524, PMID:8089138, PMID:8111412, PMID:8111413, PMID:8644704, PMID:9099834, PMID:9490302, PMID:9921904, PMID:11226217, PMID:12403825, PMID:12522561, PMID:12859417, PMID:19224584, PMID:21504867, PMID:23777470, PMID:24033266, PMID:24260279, PMID:25741868, PMID:26036949, PMID:26908836, PMID:28492532, PMID:29620724, PMID:30311386, PMID:30413728 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Sly syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            carbohydrate metabolic disorder 386
              mucopolysaccharidosis 29
                Sly syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.