FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term neurofibromatosis-Noonan syndrome ID (Ontology) DOID:0111683 (Human Disease)
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.
Also Known As "neurofibromatosis type 1-Noonan syndrome" ; "neurofibromatosis with Noonan phenotype" ; "NFNS" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 neurofibromatosis-Noonan syndrome       1
 for disease ribbon | neurofibromatosis-Noonan syndrome       1
 model of | neurofibromatosis-Noonan syndrome       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
syndrome                        |
 |__RASopathy___________________|
                                neurofibromatosis-Noonan syndrome  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
RASopathy
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "neurofibromatosis type 1-Noonan syndrome" EXACT
    "neurofibromatosis with Noonan phenotype" EXACT
    "NFNS" EXACT OMO:0003012
    "Noonan neurofibromatosis syndrome" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:372
MESH:C537393
MIM:601321
ORDO:638
SNOMEDCT_US_2023_03_01:715344006
UMLS_CUI:C2931482