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Details on Person craniosynostosis

Class:Id	Disease:2011847
_displayName	craniosynostosis
_timestamp	2011-11-22 14:46:40
created	[InstanceEdit:2011848] Rothfels, K, 2011-11-22
definition	A synostosis that results_in premature fusion located_in skull.
identifier	2340
name	craniosynostosis
referenceDatabase	[ReferenceDatabase:1247631] DOID
synonym	Premature closure of cranial sutures
(disease)	[Reaction:2012073] Autocatalytic phosphorylation of FGFR3c P250R mutant [Homo sapiens] [Reaction:2012074] FGFR3c P250R mutant binds to ligand with enhanced affinity [Homo sapiens] [Pathway:5579015] Defective CYP26B1 causes RHFCA [Homo sapiens] [FailedReaction:5602063] Defective CYP26B1 does not 4-hydroxylate atRA [Homo sapiens] [EntityWithAccessionedSequence:2011846] FGFR2b S252W [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2011852] FGFR2c S252W [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2011857] FGFR3c P250R [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2011870] p6Y-FGFR3c P250R [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2011874] p-8Y-FGFR2b S252W [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:2011879] p-8Y-FGFR2c S252W [plasma membrane] [Homo sapiens] List all 16 refering instances
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No pathways have been reviewed or authored by craniosynostosis (2011847)