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loading...| Preferred Name | Nephronophthisis | |
| Synonyms |
Nephronophthisis |
|
| Definitions |
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123200 |
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| ALT_DEFINITION |
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. |
|
| code |
C123200 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
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| DEFINITION |
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. |
|
| FULL_SYN |
Nephronophthisis |
|
| label |
Nephronophthisis |
|
| Preferred_Name |
Nephronophthisis |
|
| prefixIRI |
Thesaurus:C123200 |
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| Semantic_Type |
Finding |
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| UMLS_CUI |
C3280901 |
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| subClassOf |
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