Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
short-rib thoracic dysplasia 8 with or without polydactyly (DOID:0110094)
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  
short-rib thoracic dysplasia 7 with or without polydactyly  
short-rib thoracic dysplasia 8 with or without polydactyly  
An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. (DO)
short-rib thoracic dysplasia 9 with or without polydactyly  

Synonyms
Exact Synonyms: SHORT RIB POLYDACTYLY SYNDROME 6 ;   SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI ;   SRPS6 ;   SRTD8
Primary IDs: OMIM:615503 ;   RDO:9000968
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23910462

paths to the root

NHLBI Logo

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