OBO ID: DOID:0111683
Term Name: neurofibromatosis-Noonan syndrome Search Ontology:
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 )
OTHER neurofibromatosis-Noonan syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NF1 Neurofibromatosis-Noonan syndrome 601321
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None