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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

Referenced OMIM:
OMIM:101600 - PFEIFFER SYNDROME

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : fgfr2, fgfr1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): acrocephalosyndactylia (is_a), autosomal dominant disease (is_a)


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