Preferred Name | Adenine Phosphoribosyltransferase Deficiency | |
Synonyms |
Adenine Phosphoribosyltransferase Deficiency |
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Definitions |
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. |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121564 |
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code |
C121564 |
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Concept_In_Subset | ||
Contributing_Source |
Cellosaurus |
|
DEFINITION |
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. |
|
FULL_SYN |
Adenine Phosphoribosyltransferase Deficiency |
|
label |
Adenine Phosphoribosyltransferase Deficiency |
|
Preferred_Name |
Adenine Phosphoribosyltransferase Deficiency |
|
prefixIRI |
Thesaurus:C121564 |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0268120 |
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subClassOf |
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