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ONTOLOGY REPORT - ANNOTATIONS


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;   Mucopolysaccharidosis Type VIIs;   Mucopolysaccharidosis VIIs;   Sly Disease;   beta Glucuronidase Deficiency;   beta-Glucuronidase Deficiencies;   deficiency of beta-glucuronidase;   mucopolysaccharidosis VII
 primary_id: MESH:D016538
 alt_id: OMIA:000667;   OMIM:253220;   RDO:0006969
 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 JBrowse Chr Start Stop Reference
G Gusb glucuronidase, beta JBrowse link 12 30,202,066 30,215,583 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      Sly syndrome 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            carbohydrate metabolic disorder 328
              mucopolysaccharidosis 26
                Sly syndrome 1
paths to the root

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