Term Name: neurofibromatosis-Noonan syndrome
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.
Ontology: Human Disease [DOID:0111683]   ( DOID:0111683 )

Relationships
is a type of: autosomal dominant disease RASopathy