Noonan syndrome

Term ID

DOID:3490

Synonyms

Turner's phenotype, karyotype normal

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. (4)

References

GARD:10955
ICD10CM:Q87.19
MESH:D009634
NCI:C34854
OMIM:PS163950
ORDO:648
SNOMEDCT_US_2023_03_01:88327006
UMLS_CUI:C0028326

Ontology

Human Disease ( DOID:3490 )

Relationships

is a type of: monogenic disease RASopathy

monogenic disease RASopathy Show first 5 Terms
has subtype: Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 ... Show All 13 Terms

Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome 10 Noonan syndrome 11 Noonan syndrome 12 Noonan syndrome 13 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations