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loading...| Preferred Name | Adenine Phosphoribosyltransferase Deficiency | |
| Synonyms |
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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://purl.obolibrary.org/obo/NCIT_C121564 |
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| code |
C121564 |
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| Contributing_Source |
Cellosaurus |
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| 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. |
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| in_subset | ||
| label |
Adenine Phosphoribosyltransferase Deficiency |
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| Preferred_Name |
Adenine Phosphoribosyltransferase Deficiency |
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| prefixIRI |
NCIT:C121564 |
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| prefLabel |
Adenine Phosphoribosyltransferase Deficiency |
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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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