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DO Term : Sly syndrome [DOID:12803] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
MPS VII - Sly syndrome,
SNOMEDCT_US_2023_03_01:43916004,
UMLS_CUI:C0085132,
MESH:D016538,
beta-glucuronidase deficiency,
OMIM:253220,
ICD10CM:E76.29,
253220,
mucopolysaccharidosis VII,
NCI:C84903,
deficiency of beta-glucuronidase

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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