Version: 8.0.0
Date: Tue Jan 28 2025
neurofibromatosis-Noonan syndrome
DOID:0111683
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

neurofibromatosis-Noonan syndrome

Definition
A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2.
Synonyms
  • neurofibromatosis type 1-Noonan syndrome
  • neurofibromatosis with Noonan phenotype
Cross References
Parent Terms
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None
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