Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
Jump to:
loading...
Preferred Name

nephronophthisis
Synonyms

nephronophthisis

nephronophthisis (disease)

medullary cystic kidney

medullary cystic disease
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
has_exact_synonym

nephronophthisis

nephronophthisis (disease)

medullary cystic kidney

medullary cystic disease
IAO_0000589

nephronophthisis (disease)
label

nephronophthisis
prefixIRI

MONDO:0019005
prefLabel

nephronophthisis
textual 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.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0006025

http://purl.obolibrary.org/obo/MONDO_0015962
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0019005 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019005 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019005 KTAO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019005 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2100015 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200140 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1201036 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_12712 DOID LOOM
http://purl.obolibrary.org/obo/HP_0000090 EFO LOOM
http://purl.obolibrary.org/obo/HP_0000090 HP LOOM
rgo:16258 GAMUTS LOOM
rgo:16258 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0019005 EFO LOOM
http://purl.obolibrary.org/obo/DOID_12712 DOID LOOM
http://www.co-ode.org/ontologies/galen#Nephronophthisis GALEN LOOM
http://purl.org/obo/owl/HP#HP_0000090 BDO LOOM
http://purl.jp/bio/4/id/200906058047630074 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10066248 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123200 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0431715 OCHV LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1306 IFAR LOOM
http://www.phoc.org.cn/pmo/class/PMO_00007941 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/204958008 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C123200 BERO LOOM
http://www.orpha.net/ORDO/Orphanet_655 ORDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU000621 OMIM LOOM
http://purl.obolibrary.org/obo/HP_0000090 HP LOOM
http://purl.obolibrary.org/obo/HP_0000090 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0000090 KTAO LOOM
http://purl.bioontology.org/ontology/RCD/PD120 RCD LOOM
http://www.gamuts.net/entity#nephronophthisis GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_12712 DTO LOOM
http://purl.obolibrary.org/obo/DOID_12712 BAO LOOM
http://purl.obolibrary.org/obo/DOID_12712 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12712 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12712 FNS-H LOOM