Preferred Name |
nephronophthisis |
|
Synonyms |
medullary cystic kidney |
|
Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. 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). |
|
ID |
http://purl.obolibrary.org/obo/DOID_12712 |
|
comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
UMLS_CUI:C0687120 NCI:C123200 ICD10CM:Q61.5 OMIM:PS256100 SNOMEDCT_US_2020_03_01:204958008 GARD:206 ORDO:655 |
|
has exact synonym |
medullary cystic kidney medullary cystic disease |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:12712 |
|
imported from | ||
in_subset | ||
label |
nephronophthisis |
|
notation |
DOID:12712 |
|
prefLabel |
nephronophthisis |
|
textual 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). |
|
subClassOf |
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