01
- 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.