FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Sly syndrome

Synonyms
Definitions

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.

ID

http://purl.obolibrary.org/obo/DOID_12803

definition

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Sly syndrome

prefixIRI

DOID:12803

prefLabel

Sly syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_12798

Delete Subject Author Type Created
No notes to display