About   Help   FAQ
Disease Ontology Browser
Pfeiffer syndrome (DOID:14705)
Alliance: disease page
Synonyms: acrocephalosyndactylia type V
Alt IDs: OMIM:101600, MESH:D000168, NCI:C99100, ORDO:710, UMLS_CUI:C0220658
Definition: An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory