Term Name: | Pfeiffer syndrome |
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Synonyms: | acrocephalosyndactylia type V |
Definition: | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
Ontology: | Human Disease [DOID:14705] ( DOID:14705 ) |