Rubinstein-Taybi syndrome

Summary
Synonym
  • Broad Thumb-Hallux syndrome
  • Rubinstein syndrome
  • proximal chromosome 16p13.3 deletion syndrome
Definition
A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
Super Class
autosomal dominant disease chromosomal deletion syndrome syndrome
External Links
Disease Ontology
DOID:1933
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
4968 OGG1 8-oxoguanine DNA glycosylase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
8809 IL18R1 interleukin 18 receptor 1
55556 ENOSF1 enolase superfamily member 1
Related Glycoprotein

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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