thanatophoric dysplasia

Summary
Definition
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
Super Class
osteochondrodysplasia
External Links
Disease Ontology
DOID:13481
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
952 CD38 CD38 molecule
3339 HSPG2 heparan sulfate proteoglycan 2
3998 LMAN1 lectin, mannose binding 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
45320 trol terribly reduced optic lobes

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