loading...| Preferred Name |
Nephronophthisis |
|
| Synonyms |
juvenile nephronophthisis |
|
| Definitions |
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. Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. |
|
| 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 |
|
| has_obo_namespace |
human_phenotype |
|
| id |
HP:0000090 |
|
| label |
Nephronophthisis |
|
| notation |
HP:0000090 |
|
| prefLabel |
Nephronophthisis |
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| treeView | ||
| subClassOf |