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Standards Ontologies Notations
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
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2261 FGFR3 fibroblast growth factor receptor 3
3339 HSPG2 heparan sulfate proteoglycan 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
15530 Hspg2 perlecan (heparan sulfate proteoglycan 2)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
39564 btl breathless
42160 htl heartless
45320 trol terribly reduced optic lobes
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
399347 fgfr3.S fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
175126 unc-52 Basement membrane proteoglycan;Basement membrane-specific heparan sulfate proteoglycan core protein;Ig-like domain-containing protein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024