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Ontology Browser

Term:
asphyxiating thoracic dystrophy 2 (DOID:0110086)
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  
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. (DO)
asphyxiating thoracic dystrophy 3  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
Beemer-Langer syndrome  
Jeune Syndrome Situs Inversus 
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  
short-rib thoracic dysplasia 9 with or without polydactyly  

Synonyms
Exact Synonyms: ATD2 ;   SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY ;   SRTD2
Primary IDs: MESH:C566982 ;   RDO:0015175
Alternate IDs: OMIM:611263
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17468754

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