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

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
  • http://identifiers.org/mesh/D009634
  • https://omim.org/phenotypicSeries/PS163950
  • http://www.orpha.net/ORDO/Orphanet_648
  • 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
narrowMatch
  • http://apps.who.int/classifications/icd10/browse/2010/en#/Q87.1
should conform to
  • http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml