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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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/19/2024
MGI 6.24 		The Jackson Laboratory