neurofibromatosis-Noonan syndrome (DOID:0111683)
Alliance: disease page
Synonyms: neurofibromatosis type 1-Noonan syndrome; neurofibromatosis with Noonan phenotype; NFNS; Noonan neurofibromatosis syndrome
Alt IDs: OMIM:601321, MESH:C537393, ORDO:638, UMLS_CUI:C2931482
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.