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Summary Literature (0)
DOID:14705 - Pfeiffer syndrome

Disease Ontology Definition:An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.

Synonyms: acrocephalosyndactylia type V

Xenbase Genes : fgfr2, fgfr1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007043 - Pfeiffer syndrome

MIM:
MIM:101600 - PFEIFFER SYNDROME

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): acrocephalosyndactylia (is_a), autosomal dominant disease (is_a)