FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Noonan syndrome ID (Ontology) DOID:3490 (Human Disease)
Definition A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
Also Known As "Turner's phenotype, karyotype normal"
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      14
Human Disease Models (FBhh)  DOID       1
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Noonan syndrome      14      8      1
 ameliorates | Noonan syndrome       3       --       --
 model of | Noonan syndrome      11       --       --
Spanning Tree (Parents/Children)
Only view relationship: 
syndrome
 |__RASopathy__________
genetic disease        |
 |__monogenic disease__|
                       Noonan syndrome  47 rec.
                        |__Noonan syndrome 1 10 rec.
                        |__Noonan syndrome 2 1 rec.
                        |__Noonan syndrome 3 5 rec.
                        |__Noonan syndrome 4 1 rec.
                        |__Noonan syndrome 5 2 rec.
                        |__Noonan syndrome 6 1 rec.
                        |__Noonan syndrome 7 2 rec.
                        |__Noonan syndrome 8 2 rec.
                        |__Noonan syndrome 9 1 rec.
                        |__Noonan syndrome 10 1 rec.
                        |__Noonan syndrome 11 4 rec.
                        |__Noonan syndrome 12 4 rec.
                        |__Noonan syndrome 13 1 rec.
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Is a monogenic disease
RASopathy
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Synonyms
  • "Turner's phenotype, karyotype normal" EXACT
Secondary IDs
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GARD:10955
ICD10CM:Q87.19
MESH:D009634
MIM:PS163950
NCI:C34854
ORDO:648
SNOMEDCT_US_2023_03_01:88327006
UMLS_CUI:C0028326