Terminology Service for NFDI4Health
Adenine Phosphoribosyltransferase Deficiency
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http://purl.obolibrary.org/obo/NCIT_C121564
An inherited condition caused by mutations in the APRT gene that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones. [ ]
Term info
Label
Adenine Phosphoribosyltransferase Deficiency
Synonyms
- Adenine Phosphoribosyltransferase Deficiency
Preferred Name
Adenine Phosphoribosyltransferase Deficiency
Semantic Type
Disease or Syndrome
UMLS CUI
C0268120
code
C121564