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nephronophthisis

Go to external page http://purl.obolibrary.org/obo/MONDO_0019005

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. [ NCIT:P378 ]

Synonyms: medullary cystic disease nephronophthisis nephronophthisis (disease) medullary cystic kidney

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:12712 (MONDO:equivalentTo)
  • UMLS:C0687120 (Orphanet:655)
  • OMIMPS:256100 (MONDO:equivalentTo)
  • HP:0000090 (MONDO:otherHierarchy)
  • NCIT:C123200 (MONDO:equivalentTo)
  • GARD:206 (Orphanet:655)
  • Orphanet:655 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000589

nephronophthisis (disease)

exactMatch

http://purl.obolibrary.org/obo/NCIT_C123200

http://www.orpha.net/ORDO/Orphanet_655

https://omim.org/phenotypicSeries/PS256100

http://linkedlifedata.com/resource/umls/id/C0687120

http://purl.obolibrary.org/obo/DOID_12712

id

MONDO:0019005

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0019005