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Ontology Browser

Term:
short-rib thoracic dysplasia 10 with or without polydactyly (DOID:0110091)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
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  
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. (DO)
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: SRTD10
Narrow Synonyms: SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY ;   SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
Primary IDs: OMIM:615630 ;   RDO:9001019
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/24140113

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