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Repository for lectin-assisted multimodality data
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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
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11362 | Fibroblast growth factor receptor 1 | |
| P21802 | Fibroblast growth factor receptor 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A1YYN3 | FGFR2 | |
| Q61565 | FGF receptor-like molecule (Fragment) |
