loading...| Preferred Name | nephronophthisis | |
| Synonyms |
nephronophthisis nephronophthisis (disease) medullary cystic kidney medullary cystic disease |
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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/MONDO_0019005 |
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| altLabel |
nephronophthisis nephronophthisis (disease) medullary cystic kidney medullary cystic disease |
|
| 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. |
|
| has_exact_synonym |
nephronophthisis nephronophthisis (disease) medullary cystic kidney medullary cystic disease |
|
| IAO_0000589 |
nephronophthisis (disease) |
|
| label |
nephronophthisis |
|
| prefixIRI |
MONDO:0019005 |
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| prefLabel |
nephronophthisis |
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| textual 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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| subClassOf |