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loading...| Preferred Name | Nephronophthisis | |
| Synonyms |
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| 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://purl.obolibrary.org/obo/NCIT_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. |
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| code |
C123200 |
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| 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. |
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| in_subset | ||
| label |
Nephronophthisis |
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| Preferred_Name |
Nephronophthisis |
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| prefixIRI |
NCIT:C123200 |
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| prefLabel |
Nephronophthisis |
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| Semantic_Type |
Finding |
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| UMLS_CUI |
C3280901 |
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| subClassOf |
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