FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

nephronophthisis
Synonyms
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).
ID

http://purl.obolibrary.org/obo/DOID_12712
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).
imported from

http://purl.obolibrary.org/obo/doid.owl
label

nephronophthisis
prefixIRI

DOID:12712
prefLabel

nephronophthisis
subClassOf

http://purl.obolibrary.org/obo/DOID_557

http://purl.obolibrary.org/obo/DOID_0050737
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_12712 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_12712 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_12712 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_12712 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_12712 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12712 NIFSTD 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/MONDO_0019005 DOVES 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