Reactome | Pfeiffer syndrome

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created	[InstanceEdit:2011839] Rothfels, K, 2011-11-22
databaseName	DOID
dbId	2011836
definition	An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
displayName	Pfeiffer syndrome
identifier	14705
name	Pfeiffer syndrome
referenceDatabase	[ReferenceDatabase:1247631] DOID
schemaClass	Disease
synonym	acrocephalosyndactylia type V
url	https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:14705

(disease)

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