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Diseases

Aural Atresia, Congenital

aural atresia, congenital

Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

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

Direct relations and traceable candidates grouped by relation type.

Candidate Ingredients

target disease -> ingredient target8 Ingredients