Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. [ Orphanet:648 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_malformation_syndrome, clingen

clingen preferred
Noonan syndrome [ NCIT:C34854 ]

closeMatch

http://identifiers.org/meddra/10029748

definition

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

exactMatch

http://identifiers.org/snomedct/205824006

http://linkedlifedata.com/resource/umls/id/C0028326

http://purl.obolibrary.org/obo/NCIT_C34854

https://omim.org/phenotypicSeries/PS163950

http://www.orpha.net/ORDO/Orphanet_648

http://identifiers.org/mesh/D009634

http://purl.obolibrary.org/obo/DOID_3490

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0021060

has exact synonym

Noonan syndrome

Noonan's syndrome

Turner's phenotype, karyotype normal

has related synonym

pseudo-Ullrich-Turner syndrome

Noonan-Ehmke syndrome

Ullrich-Noonan syndrome

id

MONDO:0018997

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml