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loading...| Preferred Name |
Nephronophthisis 1 |
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| Synonyms |
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| Definitions |
Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C74998 |
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| code |
C74998 |
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| Contributing_Source |
Cellosaurus |
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| definition |
Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. |
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| in_subset | ||
| label |
Nephronophthisis 1 |
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| Legacy Concept Name |
Familiar_Juvenile_Nephronophthisis |
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| Preferred_Name |
Nephronophthisis 1 |
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| prefixIRI |
NCIT:C74998 |
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| prefLabel |
Nephronophthisis 1 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1855681 |
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| subClassOf |
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