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Ontology Browser

Term:
short-rib thoracic dysplasia 6 with or without polydactyly (DOID:0110092)
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  
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  
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. (DO)
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: Majewski syndrome ;   Polydactyly With Neonatal Chondrodystrophy, Type II ;   Polydactyly with Neonatal Chondrodystrophy, Type 2 ;   SRPS, Type II ;   SRPS2A ;   SRTD6 ;   Short Rib Polydactyly Syndrome, Type II ;   Short Rib-Polydactyly Syndrome, Type IIA
Primary IDs: OMIM:263520
Alternate IDs: RDO:9004138
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/21211617, https://www.ncbi.nlm.nih.gov/pubmed/22499340

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