loading...| Preferred Name | nephronophthisis | |
| Synonyms |
medullary cystic kidney medullary cystic disease |
|
| Definitions |
A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_12712 |
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
medullary cystic kidney medullary cystic disease |
|
| database_cross_reference |
UMLS_CUI:C0687120 SNOMEDCT_US_2023_03_01:204958008 NCI:C123200 ICD10CM:Q61.5 OMIM:PS256100 GARD:206 ORDO:655 |
|
| definition |
A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| has exact synonym |
medullary cystic kidney medullary cystic disease |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:12712 |
|
| in_subset | ||
| label |
nephronophthisis |
|
| notation |
DOID:12712 |
|
| note |
A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| preferred label |
nephronophthisis |
|
| prefLabel |
nephronophthisis |
|
| subClassOf |