MSeqDR Mitochondrial Disease Portal


 
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expandhereditary lymphedema (MONDO:0019313)
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expandmalposition of external canthus (MONDO:0020167)
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expandMoyamoya syndrome (MONDO:0018792)
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expandNoonan syndrome and Noonan-related syndrome (MONDO:0020297)
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expandpolymalformative genetic syndrome with increased risk of developing cancer (MONDO:0015945)
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expandsyndromic renal or urinary tract malformation (MONDO:0019721)
..Starting node
..expandNoonan syndrome ()

       Child Nodes:
........expandNoonan syndrome 1 ()
........expandNoonan syndrome 10 ()
........expandNoonan syndrome 2 ()
........expandNoonan syndrome 3 ()
........expandNoonan syndrome 4 ()
........expandNoonan syndrome 5 ()
........expandNoonan syndrome 6 ()
........expandNoonan syndrome 7 ()
........expandNoonan syndrome 8 ()
........expandNoonan syndrome 9 ()



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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18997
Name:Noonan syndrome
Definition:Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.
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Synonyms:Noonan syndrome; Noonan's syndrome; Noonan-Ehmke syndrome; pseudo-Ullrich-Turner syndrome; Turner's phenotype, karyotype normal; Ullrich-Noonan syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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