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loading...| Preferred Name |
Cystinuria |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84664 |
| code |
C84664 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| DEFINITION |
An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder. |
| FULL_SYN |
Cystinuria |
| label |
Cystinuria |
| Preferred_Name |
Cystinuria |
| prefixIRI |
Thesaurus:C84664 |
| prefLabel |
Cystinuria |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0010691 |
| subClassOf |
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