Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

Sly syndrome

Synonyms

MPS VII - Sly syndrome

deficiency of beta-glucuronidase

mucopolysaccharidosis VII

beta-glucuronidase deficiency

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

UMLS_CUI:C0085132

SNOMEDCT_US_2016_03_01:124470009

OMIM:253220

NCI:C84903

MESH:D016538

ICD10CM:E76.29

SNOMEDCT_US_2016_03_01:43916004

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

deficiency of beta-glucuronidase

mucopolysaccharidosis VII

beta-glucuronidase deficiency

has_obo_namespace

disease_ontology

id

DOID:12803

label

Sly syndrome

notation

DOID:12803

prefLabel

Sly syndrome

treeView

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

subClassOf

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

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Sly_Syndrome Cigarette Smoke Exposure Ontology LOOM
http://purl.obolibrary.org/obo/DOID_12803 Cell Line Ontology SAME_URI
http://purl.obolibrary.org/obo/DOID_12803 Neuroscience Information Framework (NIF) Standard Ontology LOOM
http://purl.obolibrary.org/obo/DOID_12803 Neuroscience Information Framework (NIF) Standard Ontology SAME_URI
http://purl.obolibrary.org/obo/DOID_12803 Monarch Disease Ontology SAME_URI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84903 National Cancer Institute Thesaurus LOOM
http://www.co-ode.org/ontologies/galen#SlySyndrome Galen Ontology LOOM