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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)
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Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory