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Core Information
Disease Name
Aural Atresia, Congenital
Standard Disease Name
aural atresia, congenital
MeSH Tree
No data
ICD-10
D81.5
Identifiers
DO ID
No data
MeSH ID
C562587
OMIM ID
613179
UMLS ID
C0268125
HPO ID
No data
Description and Extensions
Description
NCI2016_02D:PNP reversibly catalyzes the phosphorolysis of the purine nucleosides, (deoxy)inosine and (deoxy)guanosine, to their respective purine bases and the corresponding ribose-1-phosphate. Deficiency in this enzyme is an autosomal recessive cause of combined immunodeficiency.
Related
Related Entities
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