loading...| Preferred Name |
Sly Syndrome |
|
| Synonyms |
Sly Syndrome Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII |
|
| Definitions |
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta-glucuronidase. It is characterized by hepatosplenomegaly, skeletal deformities, enlarged head, and mental retardation. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84903 |
|
| code |
C84903 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus CTRP |
|
| DEFINITION |
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta-glucuronidase. It is characterized by hepatosplenomegaly, skeletal deformities, enlarged head, and mental retardation. |
|
| Display_Name |
Sly Syndrome |
|
| FULL_SYN |
Sly Syndrome Beta-Glucuronidase Deficiency Mucopolysaccharidosis Type VII |
|
| label |
Sly Syndrome |
|
| Preferred_Name |
Sly Syndrome |
|
| prefixIRI |
Thesaurus:C84903 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0085132 |
|
| subClassOf |