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Details on Person Pfeiffer syndrome

Class:Id	Disease:2011836
_displayName	Pfeiffer syndrome
_timestamp	2011-11-22 14:46:15
created	[InstanceEdit:2011839] Rothfels, K, 2011-11-22
definition	An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
identifier	14705
name	Pfeiffer syndrome
referenceDatabase	[ReferenceDatabase:1247631] DOID
synonym	acrocephalosyndactylia type V
(disease)	[EntityWithAccessionedSequence:1637929] FGFR2 W290C [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2011838] FGFR1c P252R [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2011858] p-8Y-FGFR1c P252R [plasma membrane] [Homo sapiens] [Complex:2011923] FGFR1c P252R mutant dimer [plasma membrane] [Homo sapiens] [Complex:2011960] p-8Y-FGFR1c P252R dimer [plasma membrane] [Homo sapiens] [DefinedSet:2012029] FGFR1c P252X mutants [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2029862] p-8Y-FGFR2c W290G [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2029883] FGFR2c W290G [plasma membrane] [Homo sapiens] [Complex:2029913] Activated FGFR2c W290G mutant [plasma membrane] [Homo sapiens] [Complex:2029930] FGFR2c W290G mutant dimer [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by Pfeiffer syndrome (2011836)