Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
thyroid dyshormonogenesis 1

Summary
Synonym
  • TDH1
  • genetic defect in thyroid hormonogenesis 1
  • iodide accumulation, transport, or trapping defect
Definition
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.
Super Class
autosomal recessive disease familial thyroid dyshormonogenesis
Disease Ontology
DOID:0112185
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6528 SLC5A5 solute carrier family 5 member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
114613 Slc5a5 solute carrier family 5 member 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
43136 kumpel kin of rumpel
326229 CG32669 uncharacterized protein
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 v4.1.0

Last updated: December 9, 2024