Greig cephalopolysyndactyly syndrome

Summary
Synonym
  • polysyndactyly with peculiars skull shape
Definition
An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face.
Super Class
acrocephalosyndactylia autosomal dominant disease
External Links
Disease Ontology
DOID:14761
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5224 PGAM2 phosphoglycerate mutase 2

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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