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Ontology Browser

Term:
Saldino-Noonan syndrome (DOID:0050549)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
asphyxiating thoracic dystrophy 1  
asphyxiating thoracic dystrophy 2  
asphyxiating thoracic dystrophy 3  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
Beemer-Langer syndrome  
Saldino-Noonan syndrome  
A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase. (DO)
short-rib thoracic dysplasia 10 with or without polydactyly  
short-rib thoracic dysplasia 11 with or without polydactyly  
short-rib thoracic dysplasia 13 with or without polydactyly  
short-rib thoracic dysplasia 14 with polydactyly  
Short-Rib Thoracic Dysplasia 15 with Polydactyly  
Short-Rib Thoracic Dysplasia 16 with or without Polydactyly  
Short-Rib Thoracic Dysplasia 17 with or without Polydactyly  
short-rib thoracic dysplasia 18 with polydactyly  
short-rib thoracic dysplasia 19 with or without polydactyly  
Short-Rib Thoracic Dysplasia 20 with Polydactyly  
short-rib thoracic dysplasia 6 with or without polydactyly  
short-rib thoracic dysplasia 7 with or without polydactyly  
short-rib thoracic dysplasia 8 with or without polydactyly  
short-rib thoracic dysplasia 9 with or without polydactyly  

Synonyms
Exact Synonyms: SRPS type 1 ;   polydactyly with neonatal chondrodystrophy, type 1 ;   polydactyly with neonatal chondrodystrophy, type I ;   short rib polydactyly syndrome type 1 ;   short rib polydactyly syndrome type I ;   short rib polydactyly syndrome, Saldino Noonan type
Primary IDs: RDO:9004136
Definition Sources: https://en.wikipedia.org/wiki/Noonan_syndrome

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.