Preferred Name | Sly syndrome | |
Synonyms |
MPS VII - Sly syndrome beta-glucuronidase deficiency mucopolysaccharidosis VII deficiency of beta-glucuronidase |
|
Definitions |
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. OMIM mapping confirmed by DO. [SN]. |
|
ID |
http://purl.obolibrary.org/obo/DOID_12803 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
SNOMEDCT_US_2023_03_01:43916004 MESH:D016538 ICD10CM:E76.29 UMLS_CUI:C0085132 MIM:253220 NCI:C84903 |
|
definition |
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. |
|
has exact synonym |
MPS VII - Sly syndrome beta-glucuronidase deficiency mucopolysaccharidosis VII deficiency of beta-glucuronidase |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:12803 |
|
in_subset | ||
label |
Sly syndrome |
|
notation |
DOID:12803 |
|
prefLabel |
Sly syndrome |
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subClassOf |