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MIRAGE
Weissenbacher-Zweymuller syndrome

Summary
Synonym
  • Piere-Robin syndrome
  • Pierre Robin Malformation
Definition
An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities.
Super Class
osteochondrodysplasia
Disease Ontology
DOID:4258
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11480 Acvr2a activin receptor IIA
22042 Tfrc transferrin receptor
Related Glycoprotein
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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: March 31, 2025