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Pfeiffer syndrome
Summary
- Synonym
-
- acrocephalosyndactylia type V
- Definition
- An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
- Super Class
- acrocephalosyndactylia autosomal dominant disease
External Links
- Disease Ontology
- DOID:14705
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 397782 | fgfr1.S | fibroblast growth factor receptor 1 S homeolog | Xenopus laevis (African clawed frog) | |
| 399444 | fgfr1.L | fibroblast growth factor receptor 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 548648 | fgfr1 | fibroblast growth factor receptor 1 | Xenopus tropicalis (tropical clawed frog) |
