Terminology Service for NFDI4Health

neurofibromatosis-Noonan syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0111683


A syndrome 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. [ http://purl.obolibrary.org/obo/ECO_0007645 https://www.ncbi.nlm.nih.gov/pubmed/12707950 ]

Term info

Label

neurofibromatosis-Noonan syndrome

Synonyms
  • NFNS
  • Noonan neurofibromatosis syndrome
  • neurofibromatosis type 1-Noonan syndrome
  • neurofibromatosis with Noonan phenotype
database cross reference
has obo namespace

disease_ontology

id

DOID:0111683