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Williams-Beuren syndrome
Summary
- Synonym
-
- Fanconi Schlesinger syndrome
- WBS
- Definition
- A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
- Super Class
- autosomal dominant disease chromosomal deletion syndrome syndrome
External Links
- Disease Ontology
- DOID:1928
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 13385 | Dlg4 | discs large MAGUK scaffold protein 4 | |
| 14371 | Fzd9 | frizzled class receptor 9 | |
| 16885 | Limk1 | LIM domain kinase 1 | |
| 16948 | Lox | lysyl oxidase | |
| 20779 | Src | src proto-oncogene, non-receptor tyrosine kinase | |
| 269713 | Clip2 | CAP-GLY domain containing linker protein 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43709 | 18S rRNA (guanine-N(7))-methyltransferase | |
| P15502 | Elastin | |
| Q15056 | Eukaryotic translation initiation factor 4H | |
| Q9NPG1 | Frizzled-3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05480 | Proto-oncogene tyrosine-protein kinase Src | |
| P28301 | Protein-lysine 6-oxidase | |
| P53668 | LIM domain kinase 1 | |
| Q62108 | Disks large homolog 4 | |
| Q9R216 | Frizzled-9 | |
| Q9Z0H8 | CAP-Gly domain-containing linker protein 2 |
