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Details
Link-It Detail - Disease - Noonan Syndrome
Debug Stats
  • ### Total Build Time: 261 ms 25.213 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 328 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 440 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
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  • CONCEPT_RELATIONSHIPS gt=236 ms Completed: 236 ms rowSize= 13.593 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.149 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Noonan Syndrome C0028326
Definition (1)
A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Connective Tissue Diseases C0009782
img Heart Defects, Congenital C0018798
img Craniofacial Abnormalities C0376634
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097823img Connective Tissue Diseases C0009782
img Cardiovascular Diseases C0007222img Heart Diseases C00187994img Heart Defects, Congenital C0018798
img Cardiovascular Diseases C0007222img Cardiovascular Abnormalities C02430504img Heart Defects, Congenital C0018798
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Heart Defects, Congenital C0018798
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Craniofacial Abnormalities C0376634
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Craniofacial Abnormalities C0376634
Relationships (96)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 11
diso_​to_​diso : 76
diso_​to_​phen : 2
diso_​to_​phys : 6


Relationships:
none : 24
alias_​of : 2
expanded_​form_​of : 1
manifestation_​of : 60
mapped_​to : 8
related_​to : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN166img genetic aspects C0017399
DISO_to_PHEN86img genetic aspects C0017399
DISO_to_DISO77img Complication Aspects C1171258
DISO_to_DISO49img Complication Aspects C1171258
DISO_to_CHEM48img Protein Tyrosine Phosphatase C0085536
DISO_to_CHEM46img Protein Tyrosine Phosphatase, Non-Receptor Type 11 C0656342
DISO_to_PHYS41img Mutation C0026882
DISO_to_CHEM22img Intracellular Signaling Peptides and Proteins C1449791
DISO_to_CHEM22img SON OF SEVENLESS HOMOLOG A 001 C0217396
DISO_to_CHEM22img SOS1 Protein C0217396
DISO_to_PHYS21img Mutation C0026882
DISO_to_CHEM16img Intracellular Signaling Peptides and Proteins C1449791
DISO_to_CHEM15img Gene Products, ras C0242853
DISO_to_CHEM15img Human Growth Hormone C0169964
DISO_to_CHEM15img ras Proteins C0242853
DISO_to_DISO15img Cardiomyopathic, Lentiginosis C0175704
DISO_to_DISO15img LEOPARD Syndrome C0175704
DISO_to_DISO14img Congenital Heart Defects C0018798
DISO_to_DISO13img Cardiomyopathy, Hypertrophic C0007194
DISO_to_DISO11img Abnormalities, Multiple C0000772
DISO_to_PHYS11img MAP Kinase Signaling System C0752321
DISO_to_CHEM10img Kinase Raf 1 C0139030
DISO_to_CHEM10img Protein Tyrosine Phosphatase C0085536
DISO_to_PHYS10img Germ-Line Mutation C0206530
DISO_to_ANATmanifestation_ofimg Palpebronasal fold C0229249
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0028326Noonan Syndrome0self