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Noonan syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018997

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

Synonyms: Noonan syndrome Noonan's syndrome Turner's phenotype, karyotype normal

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10029748 (Orphanet:648/e)
  • UMLS:C0028326 (Orphanet:648/e)
  • DOID:3490 (MONDO:equivalentTo)
  • OMIMPS:163950 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • SCTID:205824006 (MONDO:equivalentTo)
  • MESH:D009634 (Orphanet:648/e)
  • Orphanet:648 (MONDO:equivalentTo)
  • NCIT:C34854 (MONDO:equivalentTo)
  • NORD:1513 (MONDO:NORD)
  • GARD:10955 (Orphanet:648)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6744

closeMatch

http://identifiers.org/meddra/10029748

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 related synonym

pseudo-Ullrich-Turner syndrome

Noonan-Ehmke syndrome

Ullrich-Noonan syndrome

id

MONDO:0018997

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018997