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SADDAN
Summary
- Synonym
-
- SADDAN dysplasia
- severe achondroplasia with developmental delay and acanthosis nigricans
- Definition
- A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111158
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07585 | Decorin | |
| P16112 | Aggrecan core protein | |
| P19174 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 |
