neurofibromatosis-Noonan syndrome

Summary

DOID:0111683 - neurofibromatosis-Noonan syndrome

Disease Ontology 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.

Synonyms: NFNS, Noonan neurofibromatosis syndrome, neurofibromatosis type 1-Noonan syndrome, neurofibromatosis with Noonan phenotype,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nf1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): RASopathy (is_a), autosomal dominant disease (is_a), syndrome (is_a)