brachyolmia

Summary
Synonym
  • brachyrachia
Definition
An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
Super Class
osteochondrodysplasia
External Links
Disease Ontology
DOID:0050690
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9060 PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O95340 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2

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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: August 19, 2024