mucopolysaccharidosis II

Summary
Synonym
  • Hunter syndrome
  • Hunter's syndrome
  • MPS II - Hunter syndrome
  • Mucopolysaccharidosis, MPS-II
  • deficiency of iduronate-2-sulphatase
Definition
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Super Class
mucopolysaccharidosis
External Links
Disease Ontology
DOID:12799
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 40 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
176 ACAN aggrecan
353 APRT adenine phosphoribosyltransferase
410 ARSA arylsulfatase A
411 ARSB arylsulfatase B
821 CANX calnexin
847 CAT catalase
912 CD1D CD1d molecule
952 CD38 CD38 molecule
1800 DPEP1 dipeptidase 1
The Human Phenotype Ontology
Displaying entries 41 - 50 of 109 in total
HPO ID HPO Term
HP:0001641 Abnormal pulmonary valve morphology
HP:0001654 Abnormal heart valve morphology
HP:0001679 Abnormal aortic morphology
HP:0001702 Abnormal tricuspid valve morphology
HP:0001744 Splenomegaly
HP:0002028 Chronic diarrhea
HP:0002091 Restrictive ventilatory defect
HP:0002159 Heparan sulfate excretion in urine
HP:0002176 Spinal cord compression
HP:0002360 Sleep abnormality
Displaying 1 entry
Gene ID Gene Symbol Description
3423 IDS iduronate 2-sulfatase

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024