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Standards Ontologies Notations
Guidelines
MIRAGE
thanatophoric dysplasia

Summary
Definition
An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
Super Class
osteochondrodysplasia
Disease Ontology
DOID:13481
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2261 FGFR3 fibroblast growth factor receptor 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
15530 Hspg2 perlecan (heparan sulfate proteoglycan 2)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P22607 Fibroblast growth factor receptor 3
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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

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Last updated: December 8, 2025