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.
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
ClinVar Annotator: match by OMIM:253220 ClinVar Annotator: match by term: Mucopolysaccharidosis type VII ClinVar Annotator: match by term: Sly syndrome