Term Name: | neurofibromatosis-Noonan syndrome |
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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 ) |