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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13478 | Interleukin-18 receptor 1 | |
| Q7L5Y1 | Mitochondrial enolase superfamily member 1 |
