loading...| Preferred Name |
Nephronophthisis 1 |
|
| Synonyms |
Nephronophthisis 1 Juvenile Nephronophthisis Familial Juvenile Nephronophthisis NPH1 |
|
| 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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74998 |
|
| code |
C74998 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| 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. |
|
| FULL_SYN |
Nephronophthisis 1 Juvenile Nephronophthisis Familial Juvenile Nephronophthisis NPH1 |
|
| label |
Nephronophthisis 1 |
|
| Legacy Concept Name |
Familiar_Juvenile_Nephronophthisis |
|
| Preferred_Name |
Nephronophthisis 1 |
|
| prefixIRI |
Thesaurus:C74998 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C1855681 |
|
| subClassOf |