loading...| Preferred Name | nephronophthisis | |
| Synonyms |
nephronophthisis medullary cystic disease nephronophthisis (disease) medullary cystic kidney |
|
| Definitions |
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019005 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0019005 |
|
| database_cross_reference |
NCIT:C123200 OMIMPS:256100 NANDO:1201036 NANDO:2200140 NANDO:2100015 MEDGEN:146912 UMLS:C0687120 Orphanet:655 icd11.foundation:158151813 NANDO:2200170 DOID:12712 GARD:206 HP:0000090 |
|
| definition |
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. |
|
| has_exact_synonym |
nephronophthisis medullary cystic disease nephronophthisis (disease) medullary cystic kidney |
|
| IAO_0000589 |
nephronophthisis (disease) |
|
| id |
MONDO:0019005 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
nephronophthisis |
|
| notation |
MONDO:0019005 |
|
| preferred label |
nephronophthisis |
|
| prefLabel |
nephronophthisis |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/158151813 https://omim.org/phenotypicSeries/PS256100 http://purl.obolibrary.org/obo/NCIT_C123200 http://identifiers.org/medgen/146912 http://purl.obolibrary.org/obo/Orphanet_655 |
|
| subClassOf |