orofaciodigital syndrome

Summary
Synonym
  • oral-facial-digital syndrome
Definition
A syndrome that is characterized by malformations of the face, oral cavity, and digits.
Super Class
syndrome
External Links
Disease Ontology
DOID:4501
Mondo Disease Ontology
MeSH
UMLS
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2998 GYS2 glycogen synthase 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P54840 Glycogen [starch] synthase, liver

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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