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
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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

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Path 1
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  disease 14823
    syndrome 4218
      Sly syndrome 1
Path 2
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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              mucopolysaccharidosis 25
                Sly syndrome 1
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