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Ontology Browser

Term:
asphyxiating thoracic dystrophy 5 (DOID:0110089)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
adult respiratory distress syndrome  
Airway Obstruction +   
asphyxiating thoracic dystrophy 1  
asphyxiating thoracic dystrophy 2  
asphyxiating thoracic dystrophy 3  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. (DO)
Beemer-Langer syndrome  
Circumvallate Placenta Syndrome 
hantavirus pulmonary syndrome 
Hypoventilation +   
Infantile Apparent Life-Threatening Event 
Laryngeal Granuloma 
myofibrillar myopathy 9  
neonatal respiratory failure 
newborn respiratory distress syndrome +   
Positive-Pressure Respiration, Intrinsic 
pulmonary edema +   
Respiratory Acidosis 
Respiratory Paralysis 
Respiratory Underresponsiveness to Hypoxia and Hypercapnia 
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  
Tauopathy and Respiratory Failure 
Thompson Baraitser Syndrome 

Synonyms
Exact Synonyms: ATD5 ;   SRTD5 ;   short-rib thoracic dysplasia 5 with or without polydactyly
Primary IDs: OMIM:614376 ;   RDO:9000183
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22019273

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