loading...| Preferred Name |
nephronophthisis 1 |
|
| Synonyms |
nephronophthisis (disease) caused by mutation in NPHP1 nephronophthisis type 1 nephronophthisis 1 juvenile nephronophthisis 1 NPH1 NPHP1 nephronophthisis (disease) NPHP1 familial juvenile nephronophthisis juvenile nephronophthisis nephronophthisis 1, juvenile nephronophthisis, familial juvenile 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://purl.obolibrary.org/obo/MONDO_0009728 |
|
| has_exact_synonym |
nephronophthisis (disease) caused by mutation in NPHP1 nephronophthisis type 1 nephronophthisis 1 juvenile nephronophthisis 1 NPH1 NPHP1 nephronophthisis (disease) NPHP1 familial juvenile nephronophthisis juvenile nephronophthisis nephronophthisis 1, juvenile |
|
| has_related_synonym |
nephronophthisis, familial juvenile Nph1 |
|
| IAO_0000233 | ||
| label |
nephronophthisis 1 |
|
| prefixIRI |
MONDO:0009728 |
|
| prefLabel |
nephronophthisis 1 |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0022409 |