OBO ID: DOID:14705
Term Name: Pfeiffer syndrome Search Ontology:
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. (4)
References:
Ontology: Human Disease   ( DOID:14705 )
OTHER Pfeiffer syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGFR1 Pfeiffer syndrome 101600
FGFR2 Craniofacial-skeletal-dermatologic dysplasia 101600
Pfeiffer syndrome 101600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None