01
Diseases
Adenine phosphoribosyltransferase deficiency
adenine phosphoribosyltransferase deficiency
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 23
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
- Adenine phosphoribosyltransferase deficiency
- Standard Disease Name
- adenine phosphoribosyltransferase deficiency
- MeSH Tree
- No data
- ICD-10
- E79.8
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 614723
- UMLS ID
- C0268120|C0268120|C3665382
- HPO ID
- No data
Description and Extensions
- Description
- Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing ur
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Candidate Ingredients
target disease -> ingredient target8 Ingredients
02
03
04
05
06
07
08