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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 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: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 16091
    syndrome 7036
      Sly syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            carbohydrate metabolic disorder 399
              mucopolysaccharidosis 31
                Sly syndrome 1
paths to the root