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neurofibromatosis-Noonan syndrome
Summary
- Synonym
-
- NFNS
- Noonan neurofibromatosis syndrome
- neurofibromatosis type 1-Noonan syndrome
- neurofibromatosis with Noonan phenotype
- 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.
- Super Class
- RASopathy autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111683
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
