ZFIN Human Disease: Noonan syndrome

OBO ID: DOID:3490

Term Name:	Noonan syndrome		Search Ontology:
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 Noonan syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
cbl^idv2/idv2	standard conditions	Rosello et al., 2021
lztr1^{zf3274/zf3274} (AB)	standard conditions	Nakagama et al., 2019

PHENOTYPE No data available

CITATIONS (14)