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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,
Echinobase Genes :
MIM:101600 - pfeiffer syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee