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Ontology Browser

Term:
C1 inhibitor deficiency (DOID:0060002)
Annotations: Rat: (5) Mouse: (5) Human: (5) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
atypical hemolytic-uremic syndrome  
C1 inhibitor deficiency +   
A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. (DO)
complement component 2 deficiency  
complement component 3 deficiency  
Complement Component 4, Partial Deficiency Of  
complement component 4A deficiency  
complement component 4B deficiency  
complement component 5 deficiency  
complement component 6 deficiency  
complement component 7 deficiency  
complement component 9 deficiency  
Complement Component C1r/C1s Deficiency +   
Complement Factor B Deficiency  
Complement Factor D Deficiency  
complement factor I deficiency  
type I complement component 8 deficiency  
type II complement component 8 deficiency  

Synonyms
Exact Synonyms: C1 esterase inhibitor deficiency ;   Quincke edema ;   deficiency of C1 esterase inhibitor
Primary IDs: RDO:9003128
Definition Sources: http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease

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