loading...| Preferred Name | Nephronophthisis | |
| Synonyms |
juvenile nephronophthisis |
|
| Definitions |
Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. |
|
| ID |
http://purl.obolibrary.org/obo/HP_0000090 |
|
| comment |
Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. |
|
| database_cross_reference |
UMLS:C0687120 SNOMEDCT_US:204958008 |
|
| definition |
Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. |
|
| has_alternative_id |
HP:0004748 |
|
| has_exact_synonym |
juvenile nephronophthisis |
|
| id |
HP:0000090 |
|
| label |
Nephronophthisis |
|
| notation |
HP:0000090 |
|
| preferred label |
Nephronophthisis |
|
| prefLabel |
Nephronophthisis |
|
| subClassOf |