neurofibromatosis-Noonan syndrome

Term ID

DOID:0111683

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. (2)

References

• GARD:372
• MESH:C537393
• OMIM:601321
• ORDO:638
• SNOMEDCT_US_2023_03_01:715344006
• UMLS_CUI:C2931482

Ontology

Human Disease   ( DOID:0111683 )