BioAssay Ontology

Last uploaded: February 21, 2024
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

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

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

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

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 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_12712 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_12712 FNS-H 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 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_12712 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_12712 FNS-H LOOM

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
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