Search Ontology:
Human Disease

neurofibromatosis-Noonan syndrome

Term ID
DOID:0111683
Synonyms
  • neurofibromatosis type 1-Noonan syndrome
  • neurofibromatosis with Noonan phenotype
  • NFNS
  • Noonan neurofibromatosis 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. (2)
References
Ontology
Human Disease   ( DOID:0111683 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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