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
Disease Ontology
DOID:0111158
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2261 FGFR3 fibroblast growth factor receptor 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
39564 btl breathless
42160 htl heartless
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
399347 fgfr3.S fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) S homeolog Xenopus laevis (African clawed frog)

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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: December 9, 2024