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

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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: August 19, 2024